Raras
Buscar doenças, sintomas, genes...
Hiperinsulinismo isolado congênito
ORPHA:657DOENÇA RARA

O hiperinsulinismo congênito isolado (CHI), uma doença endócrina rara, é a causa mais comum de hipoglicemia grave e persistente em recém-nascidos e na primeira infância. Caracteriza-se por uma produção excessiva ou descontrolada de insulina (inapropriada para o nível de açúcar no sangue) e por episódios repetidos de hipoglicemia profunda (níveis muito baixos de açúcar no sangue), que exigem tratamento rápido e intensivo para prevenir sequelas neurológicas. O CHI abrange duas formas diferentes: o hiperinsulinismo difuso sensível ao diazoxide e o hiperinsulinismo resistente ao diazoxide.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

O hiperinsulinismo congênito isolado (CHI), uma doença endócrina rara, é a causa mais comum de hipoglicemia grave e persistente em recém-nascidos e na primeira infância. Caracteriza-se por uma produção excessiva ou descontrolada de insulina (inapropriada para o nível de açúcar no sangue) e por episódios repetidos de hipoglicemia profunda (níveis muito baixos de açúcar no sangue), que exigem tratamento rápido e intensivo para prevenir sequelas neurológicas. O CHI abrange duas formas diferentes: o hiperinsulinismo difuso sensível ao diazoxide e o hiperinsulinismo resistente ao diazoxide.

Pesquisas ativas
7 ensaios
44 total registrados no ClinicalTrials.gov
Publicações científicas
307 artigos
Último publicado: 2025 Dec 10
Medicamentos
5 registrados
DASIGLUCAGON, OCTREOTIDE ACETATE, OCTREOTIDE

Tem tratamento?

5 medicamentos registrados
Ver detalhes, fases e interações →
DASIGLUCAGONOCTREOTIDE ACETATEOCTREOTIDEGLUCAGONAVEXITIDE

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Childhood
+ infancy, neonatal
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +10
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
22 sintomas
🧠
Neurológico
18 sintomas
🫃
Digestivo
13 sintomas
🫘
Rins
3 sintomas
❤️
Coração
3 sintomas
🦴
Ossos e articulações
2 sintomas

+ 44 sintomas em outras categorias

Características mais comuns

Coma hipoglicêmico
Estado de mal epiléptico
Tolerância anormal à glicose oral
Diabetes mellitus tipo 1
Hipoglicemia cetótica
Síncope
110sintomas
Sem dados (110)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 110 características clínicas mais associadas, ordenadas por frequência.

Coma hipoglicêmicoHypoglycemic coma
Estado de mal epilépticoStatus epilepticus
Tolerância anormal à glicose oralAbnormal oral glucose tolerance
Diabetes mellitus tipo 1Type I diabetes mellitus
Hipoglicemia cetóticaKetotic hypoglycemia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico307PubMed
Últimos 10 anos200publicações
Pico202584 papers
Linha do tempo
2026Hoje · 2026🧪 2004Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

9 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

HADHHydroxyacyl-coenzyme A dehydrogenase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity). Plays a role in the maintenance of normal spermatogenesi

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (6)
Beta oxidation of butanoyl-CoA to acetyl-CoABeta oxidation of hexanoyl-CoA to butanoyl-CoABeta oxidation of octanoyl-CoA to hexanoyl-CoABeta oxidation of decanoyl-CoA to octanoyl-CoA-CoABeta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
MECANISMO DE DOENÇA

3-alpha-hydroxyacyl-CoA dehydrogenase deficiency

An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
55.6 TPM
Adipose Visceral Omentum
50.9 TPM
Coração - Ventrículo esquerdo
49.9 TPM
Tecido adiposo
48.5 TPM
Artéria tibial
45.6 TPM
OUTRAS DOENÇAS (2)
hyperinsulinemic hypoglycemia, familial, 43-hydroxyacyl-CoA dehydrogenase deficiency
HGNC:4799UniProt:Q16836
HNF4AHepatocyte nuclear factor 4-alphaCandidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
Nuclear Receptor transcription pathwayNephron development
MECANISMO DE DOENÇA

Maturity-onset diabetes of the young 1

A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
55.4 TPM
Cólon transverso
33.0 TPM
Intestino delgado
30.7 TPM
Rim - Córtex
11.4 TPM
Pâncreas
5.6 TPM
OUTRAS DOENÇAS (7)
maturity-onset diabetes of the young type 1Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngmonogenic diabetesatypical Fanconi syndrome-neonatal hyperinsulinism syndrome
HGNC:5024UniProt:P41235
UCP2Dicarboxylate carrier SLC25A8Candidate gene tested inTolerante
FUNÇÃO

Antiporter that exports dicarboxylate intermediates of the Krebs cycle in exchange for phosphate plus a proton across the inner membrane of mitochondria, a process driven by mitochondrial motive force with an overall impact on glycolysis, glutaminolysis and glutathione-dependent redox balance. Continuous export of oxaloacetate and related four-carbon dicarboxylates from mitochondrial matrix into the cytosol negatively regulates the oxidation of acetyl-CoA substrates via the Krebs cycle, lowering

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
The fatty acid cycling model
EXPRESSÃO TECIDUAL(Ubíquo)
Baço
245.1 TPM
Linfócitos
189.5 TPM
Sangue
175.4 TPM
Pulmão
68.6 TPM
Tireoide
67.7 TPM
OUTRAS DOENÇAS (1)
hyperinsulinism due to UCP2 deficiency
HGNC:12518UniProt:P55851
HNF1AHepatocyte nuclear factor 1-alphaCandidate gene tested inAltamente restrito
FUNÇÃO

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity) (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Regulation of gene expression in beta cells
MECANISMO DE DOENÇA

Hepatic adenomas familial

Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
8.7 TPM
Intestino delgado
6.3 TPM
Rim - Córtex
5.3 TPM
Cólon transverso
4.3 TPM
Estômago
4.1 TPM
OUTRAS DOENÇAS (11)
maturity-onset diabetes of the young type 3nonpapillary renal cell carcinomahepatic adenomas, familialtype 1 diabetes mellitus 20
HGNC:11621UniProt:P20823
ABCC8ATP-binding cassette sub-family C member 8Candidate gene tested inTolerante
FUNÇÃO

Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for activation and regulation

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
Regulation of insulin secretionATP sensitive Potassium channels
MECANISMO DE DOENÇA

Leucine-induced hypoglycemia

Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.

OUTRAS DOENÇAS (12)
hyperinsulinemic hypoglycemia, familial, 1diabetes mellitus, transient neonatal, 2diabetes mellitus, permanent neonatal 3hypoglycemia, leucine-induced
HGNC:59UniProt:Q09428
SLC16A1Monocarboxylate transporter 1Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Bidirectional proton-coupled monocarboxylate transporter (PubMed:12946269, PubMed:32946811, PubMed:33333023). Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, acetate and the ketone bodies acetoacetate and beta-hydroxybutyrate, and thus contributes to the maintenance of intracellular pH (PubMed:12946269, PubMed:33333023). The transport direction is determined by the proton motive force and the concentration gradient of the substrate mon

LOCALIZAÇÃO

Cell membraneBasolateral cell membraneApical cell membrane

VIAS BIOLÓGICAS (3)
Aspirin ADMEProton-coupled monocarboxylate transportBasigin interactions
MECANISMO DE DOENÇA

Symptomatic deficiency in lactate transport

Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
63.2 TPM
Linfócitos
42.4 TPM
Testículo
38.0 TPM
Cólon sigmoide
36.8 TPM
Cólon transverso
32.2 TPM
OUTRAS DOENÇAS (3)
ketoacidosis due to monocarboxylate transporter-1 deficiencymetabolic myopathy due to lactate transporter defectexercise-induced hyperinsulinism
HGNC:10922UniProt:P53985
GCKMitogen-activated protein kinase kinase kinase kinase 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidi

LOCALIZAÇÃO

CytoplasmBasolateral cell membraneGolgi apparatus membrane

VIAS BIOLÓGICAS (5)
GlycolysisRegulation of gene expression in beta cellsRegulation of Glucokinase by Glucokinase Regulatory ProteinDefective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
EXPRESSÃO TECIDUAL(Tecido-específico)
Pituitária
34.5 TPM
Cérebro - Hemisfério cerebelar
7.2 TPM
Cerebelo
7.1 TPM
Hipotálamo
6.5 TPM
Coração - Átrio
3.1 TPM
OUTRAS DOENÇAS (7)
type 2 diabetes mellitusmaturity-onset diabetes of the young type 2permanent neonatal diabetes mellitus 1monogenic diabetes
HGNC:4195UniProt:Q12851
KCNJ11ATP-sensitive inward rectifier potassium channel 11Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:34815345). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (6)
Ion homeostasisABC-family proteins mediated transportDefective ABCC9 causes CMD10, ATFB12 and Cantu syndromeDefective ABCC8 can cause hypo- and hyper-glycemiasRegulation of insulin secretion
MECANISMO DE DOENÇA

Hyperinsulinemic hypoglycemia, familial, 2

A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
87.1 TPM
Cerebelo
37.4 TPM
Cérebro - Hemisfério cerebelar
36.8 TPM
Córtex cerebral
14.0 TPM
Brain Frontal Cortex BA9
13.9 TPM
OUTRAS DOENÇAS (12)
maturity-onset diabetes of the young type 13diabetes mellitus, permanent neonatal 2hyperinsulinemic hypoglycemia, familial, 2diabetes mellitus, transient neonatal, 3
HGNC:6257UniProt:Q14654
GLUD1Glutamate dehydrogenase 1, mitochondrialDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (PubMed:11032875, PubMed:11254391, PubMed:16023112, PubMed:16959573). Plays a role in insulin homeostasis (PubMed:11297618, PubMed:9571255). May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter gluta

LOCALIZAÇÃO

MitochondrionEndoplasmic reticulum

VIAS BIOLÓGICAS (3)
Glutamate and glutamine metabolismTranscriptional activation of mitochondrial biogenesisMitochondrial protein degradation
MECANISMO DE DOENÇA

Hyperinsulinemic hypoglycemia, familial, 6

A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF6 is an autosomal dominant form characterized by hypoglycemia due to congenital hyperinsulinism combined with persistent hyperammonemia. Clinical features include loss of consciousness due to hypoglycemia, hypoglycemic seizures, and mental retardation.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
306.2 TPM
Brain Nucleus accumbens basal ganglia
296.5 TPM
Brain Anterior cingulate cortex BA24
269.5 TPM
Brain Caudate basal ganglia
266.0 TPM
Cérebro - Amígdala
254.6 TPM
OUTRAS DOENÇAS (1)
hyperinsulinism-hyperammonemia syndrome
HGNC:4335UniProt:P00367

Medicamentos e terapias

DASIGLUCAGONPhase 3

Mecanismo: Glucagon receptor agonist

OCTREOTIDE ACETATEPhase 2

Mecanismo: Somatostatin receptor agonist

OCTREOTIDEPhase 2

Mecanismo: Somatostatin receptor agonist

GLUCAGONPhase 2

Mecanismo: Glucagon receptor agonist

AVEXITIDEPhase 1

Mecanismo: Glucagon-like peptide 1 receptor antagonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

339 variantes patogênicas registradas no ClinVar.

🧬 HADH: NM_005327.7(HADH):c.94G>T (p.Val32Phe) ()
🧬 HADH: NM_005327.7(HADH):c.754G>A (p.Ala252Thr) ()
🧬 HADH: Single allele ()
🧬 HADH: NM_005327.7(HADH):c.323C>T (p.Ser108Phe) ()
🧬 HADH: NM_005327.7(HADH):c.854del (p.Pro285fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
VUS (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
ABCC8: NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 37
2Fase 210
1Fase 12
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 5 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hiperinsulinismo isolado congênito

Centros de Referência SUS

24 centros habilitados pelo SUS para Hiperinsulinismo isolado congênito

Centros para Hiperinsulinismo isolado congênito

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

5 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

44 ensaios clínicos encontrados, 7 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

[Exercise-induced hyperinsulinism: genetic basis and clinical management].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2026 Jan 15

Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1. Fewer than 20 cases have been reported in the literature. In this review, the genetic pathogenesis, current diagnosis, and treatment of exercise-induced hyperinsulinism are systematically reviewed to improve clinicians' understanding of the disease. 运动诱发性高胰岛素血症,也称为单羧酸转运体1型高胰岛素血症,是一种罕见的先天性高胰岛素血症亚型,由编码单羧酸转运体1的SLC16A1基因功能获得性变异所致。目前文献报道的病例不足20例。该文对运动诱发性高胰岛素血症的遗传发病机制、当前诊断和治疗进行系统综述,以提高临床医生对该病的认识。.

#2

From Isolation to Support: A Parent's Journey with Congenital Hyperinsulinism.

Indian pediatrics2026 Mar
#3

Adult-Onset Nesidioblastosis: A Challenging Diagnosis Revealed by Endoscopic Ultrasonography.

The American journal of case reports2026 Mar 25

BACKGROUND Nesidioblastosis is one of the possible causes of endogenous hyperinsulinemic hypoglycemia. This diagnosis usually occurs in infants, but in rare cases it can affect adult patients. Due to its rarity, diagnostic confirmation can be challenging and clinically overlap with other diagnoses associated with hypoglycemic symptoms, often requiring management at a specialized center. CASE REPORT In this article, we present the case of a 27-year-old female patient who had experienced clinical symptoms of hypoglycemia of unknown origin for several years. Macroscopically, no focal pancreatic lesions were identified on computed tomography, magnetic resonance imaging, or ⁶⁸Gallium DOTA-D-Phe1-Tyr3-Octreotide imaging. However, endoscopic ultrasonography revealed nonspecific heterogeneous pancreatic tissue measuring 8.2×6.8 mm in the body and tail of the pancreas. Subsequent histopathologic examination of a small tissue sample demonstrated an increased number of b cells with enlarged hyperchromatic nuclei or prominent nucleoli. The exocrine portion of the pancreas was preserved. This case report highlights the diagnostic challenges associated with identifying nesidioblastosis in an adult patient and outlines our diagnostic approach, therapeutic strategy, and clinical outcomes. CONCLUSIONS Nesidioblastosis should be considered a potential cause of hyperinsulinemic hypoglycemia in adult patients who exhibit persistent hypoglycemic symptoms without macroscopic correlates on imaging methods. Endoscopic ultrasonography may serve as a valuable modality for enhancing visualization of pancreatic tissue heterogeneity, particularly when no unequivocal lesion is detectable on other imaging techniques. Based on our experience, distal pancreatectomy alone appears sufficiently effective in eliminating hypoglycemic symptoms without inducing exocrine or endocrine pancreatic insufficiency.

#4

Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8 Mutation.

Cureus2026 Feb

We report two cases of persistent neonatal hypoglycemia associated with mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunits of the adenosine triphosphate-sensitive potassium channel. In both cases, symptoms were non-specific and initially attributed to other conditions, including suspected infection. Standard treatment with enteral and parenteral glucose infusions failed to restore euglycemia. Diazoxide was administered without a clinical response. Both patients were then treated with octreotide, resulting in stabilization of glycemic levels. Genetic testing confirmed the presence of pathogenic variants consistent with congenital hyperinsulinism. Early identification and targeted management were crucial to achieving metabolic control.

#5

Pancreatectomy Outcomes in Pediatric Hyperinsulinism: A Retrospective Single-Center Experience.

The Journal of surgical research2026 Mar 12

Hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in neonates and infants. Untreated, this condition can cause permanent neurological impairment. Medical therapies such as diazoxide and octreotide are effective in some cases, but patients with severe KATP-adenosine triphosphate sensitive potassium channel mutations are often unresponsive, requiring surgery. This study evaluates surgical outcomes in HI patients at our institution and compares them with those reported in the contemporary literature. A retrospective review of 14 patients who underwent pancreatectomy for HI between 2008 and 2023 was performed. Collected data included demographics, genetic findings, imaging, surgical approach, operative details, complications, and long-term outcomes. Eleven patients (78.6%) had congenital and three (21.4%) noncongenital HI. ABCC8 or KCNJ11 mutations were identified in 50% of cases. The functional imaging localized focal disease in three noncongenital HI patients. Near-total pancreatectomy was performed in cases of diffuse disease, while subtotal resection was performed in cases of focal lesions. One patient died from sepsis. At 10-y mean follow-up, 38.4% developed diabetes mellitus, 30.8% had recurrent hypoglycemia, and 30.8% remained euglycemic. Neurodevelopmental delay occurred in 30.8%. Pancreatectomy (near total and subtotal) remains an essential treatment for refractory (diazoxide unresponsive) HI. Our results, aligned with international experience, emphasize the value of early genetic testing, functional and advanced imaging, and multidisciplinary long-term care.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 192

2026

Adult-Onset Nesidioblastosis: A Challenging Diagnosis Revealed by Endoscopic Ultrasonography.

The American journal of case reports
2026

Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8 Mutation.

Cureus
2026

Pancreatectomy Outcomes in Pediatric Hyperinsulinism: A Retrospective Single-Center Experience.

The Journal of surgical research
2026

Non-coding variants in intron 2 of HK1 associated with hyperinsulinism with variable clinical phenotype.

The Journal of clinical endocrinology and metabolism
2026

Double trouble: When focal and diffuse hyperinsulinism occur simultaneously.

Hormone research in paediatrics
2026

Robotic surgery for pancreatic disorders in children: Insights from two centers.

Journal of pediatric surgery
2026

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic CHD7 variant.

JCEM case reports
2025

Trisomy 13 as a risk factor for pulmonary hypertension induced by diazoxide.

Annals of pediatric cardiology
2026

Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.

Cureus
2026

Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism.

The Journal of clinical endocrinology and metabolism
2026

PI3K inhibition with alpelisib: a new hope for congenital hyperinsulinism.

Annals of medicine and surgery (2012)
2026

Hyperinsulinemia After Extensive Small Bowel Resection and Total Parenteral Nutrition in a Neonate: A Case Study.

Nutrition and metabolic insights
2026

Determinants of Hyperinsulinism Severity in Children with Beckwith-Wiedemann Syndrome.

The Journal of clinical endocrinology and metabolism
2026

Robotic versus Open Pancreatectomy for Focal Congenital Hyperinsulinism in Infants: A Single-Center Study.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
2025

Cells Co-Producing Insulin and Glucagon in Congenital Hyperinsulinism.

Life (Basel, Switzerland)
2026

[Exercise-induced hyperinsulinism: genetic basis and clinical management].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

Germline and somatic mutations in histologically atypical congenital hyperinsulinism.

Frontiers in endocrinology
2026

Evaluation of Congenital Hyperinsulinism Using 18F-FDOPA PET.

PET clinics
2025

Paired-Like Homeobox 2B (PHOX2B) Mutation and the Hidden Endocrine Puzzle: Hyperinsulinism in Congenital Central Hypoventilation Syndrome.

Cureus
2026

Necrotizing enterocolitis following a single very low dose of octreotide in a patient with congenital hyperinsulinism: a case successfully managed with 18F-DOPA PET/CT-guided surgery.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2026

From Isolation to Support: A Parent's Journey with Congenital Hyperinsulinism.

Indian pediatrics
2026

Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant.

Clinical endocrinology
2025

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.

Genetics research
2025

[Unsolved dental problems in children with congenital hyperinsulin].

Stomatologiia
2026

Dulaglutide as a Bridging Therapy Before Insulin for Diabetes Following Pancreatectomy on Congenital Hyperinsulinism.

JCEM case reports
2025

Nationwide Epidemiology and Genetic Background of Persistent Nonsyndromic Congenital Hyperinsulinism in Slovakia.

Hormone research in paediatrics
2025

EndoCompass Project: Research Roadmap for Diabetes, Obesity, and Metabolism.

Hormone research in paediatrics
2025

Protein losing enteropathy due to congenital disorder of glycosylation: A case report.

SAGE open medical case reports
2025

Rare Causes of Hypoglycemia-Lessons from Case Reports.

JCEM case reports
2026

Clinicopathologic Characterization of Liver Biopsies of Patients with Congenital Hyperinsulinism Presenting with Neonatal Cholestasis.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2025

Congenital hyperinsulinism due to NEUROD1 gene mutation.

Annals of pediatric endocrinology &amp; metabolism
2026

Advances in Pharmacotherapy for Congenital Hyperinsulinism.

Paediatric drugs
2025

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.

BMC medical genomics
2025

Continuous subcutaneous octreotide infusion in congenital hyperinsulinism: practical application and insights in infancy and early childhood.

Journal of diabetes and metabolic disorders
2025

Treatment of Congenital Hyperinsulinism With a Novel, Long-acting Glucagon Analogue.

JCEM case reports
2025

Case Report: Food-based enteral formula in the nutritional management of children with hyperinsulinism: single center retrospective case series.

Frontiers in endocrinology
2025

KCNJ11 readthrough variant in a patient with congenital hyperinsulinism.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2025

Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair KATP channel trafficking.

The Journal of biological chemistry
2025

Postoperative complications following surgery for congenital hyperinsulinism and insulinomas in pediatric patients.

Pediatric surgery international
2025

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers.

Frontiers in endocrinology
2025

Neonatal Congenital Hyperinsulinism: A Case-Based Contribution to the Understanding of a Rare Disorder.

Cureus
2025

Structural basis of insulin receptor antagonism by bivalent site 1-site 2 ligands.

bioRxiv : the preprint server for biology
2025

Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.

International journal of molecular sciences
2025

Persistent hyperinsulinemic hypoglycemia of infancy treated at the Hospital Infantil de Especialidades de Chihuahua.

Boletin medico del Hospital Infantil de Mexico
2025

Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.

PloS one
2025

[68Ga] labelled Exendin for radioguided surgery of intrapancreatic insulin producing lesions in patients with congenital hyperinsulinism.

EJNMMI research
2025

Maturity-Onset Diabetes of the Young Associated With a Pathogenic ABCC8 Variant: Expanding the Phenotypic Spectrum.

AACE endocrinology and diabetes
2025

Rare pediatric insulinoma case diagnosed by endoscopic ultrasonography: insights into endogenous hyperinsulinemic hypoglycemia.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors.

The Journal of clinical endocrinology and metabolism
2025

Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis.

Frontiers in endocrinology
2025

Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series.

Journal of medical case reports
2025

Management strategy for congenital hyperinsulinism with atrial septal defect and diazoxide-induced pulmonary hypertension.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2025

An Unusual Liver and Kidney Involvement in Congenital Hyperinsulinism with <italic>HNF1A</italic> Mutation: A Case Report.

Hormone research in paediatrics
2025

Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism.

Endocrinology, diabetes &amp; metabolism case reports
2025

Severe transient neonatal hyperinsulinism: First Peruvian case series.

SAGE open medical case reports
2025

VDAC1 is a target for pharmacologically induced insulin hypersecretion in β cells.

Cell reports
2025

Alpelisib Therapy in 2 Patients With Congenital Hyperinsulinism.

JCEM case reports
2025

Redo surgery for persistent hyperinsulinemic hypoglycemia of infancy in the age of laparoscopic pancreatectomy.

Annals of Saudi medicine
2025

Searching for protein partners of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) reveals keratin 8 as a novel candidate for interaction in pancreatic β-cells.

BMC molecular and cell biology
2025

Severe Neonatal Anemia with Multi-Organ Failure, Extreme Placentomegaly, and Placental Megaloblastic Erythroblastosis as Features in Identifying Congenital Dyserythropoietic Anemia Type 1: A Case Report.

Neonatology
2025

Bayliss-Starling Prize Lecture: KATP channel pathophysiology - a whole-body odyssey.

The Journal of physiology
2025

A Dual Etiology of Neonatal Hypoglycemia Secondary to FOXA2 Heterozygous Deletion.

Hormone research in paediatrics
2025

Continuous Glucose Monitoring in the Management of Congenital Hyperinsulinism: A National User-satisfaction Survey, UK.

The Journal of clinical endocrinology and metabolism
2025

Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network.

Frontiers in endocrinology
2025

Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.

Endocrine
2025

Congenital hyperinsulinemic hypoglycaemia in a neonate: a rare homozygous ABCC8 gene mutation.

BMJ case reports
2025

Global Disparities in Congenital Hyperinsulinism Care.

Endocrinology and metabolism clinics of North America
2025

Diagnosis, Therapy and Follow-Up of Type 1 Diabetes Mellitus in Children and Adolescents.

Experimental and clinical endocrinology &amp; diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
2024

Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.

Pediatric diabetes
2025

Necrolytic migratory erythema following prolonged continuous subcutaneous dasiglucagon administration: a rare dermatologic adverse event.

Endocrinology, diabetes &amp; metabolism case reports
2025

Neonatal hypoglycaemia in the offsprings of parents with maturity-onset diabetes of the young (MODY).

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Paradoxical Maturity-Onset Diabetes of the Young Arising From Loss-of-Function Mutations in ATP-Sensitive Potassium Channels.

Diabetes
2025

Clinical and epidemiological profile of congenital hyperinsulinism in Brazil.

Frontiers in endocrinology
2025

Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.

Medical sciences (Basel, Switzerland)
2025

Diagnostic and Surgical Management of Nesidioblastosis in a 42-Year-Old Man with Refractory Hypoglycemia.

The American journal of case reports
2025

Successful Management of an Infant with Congenital Focal Hyperinsulinism with No Apparent Lesion During Surgery.

Sisli Etfal Hastanesi tip bulteni
2025

Neonatal Cholestasis Associated With Transient Congenital Hyperinsulinism: A Case Report.

Cureus
2025

The genetics of low and high birthweight and their relationship with cardiometabolic disease.

Diabetologia
2025

AI-based discovery and cryoEM structural elucidation of a KATP channel pharmacochaperone.

eLife
2025

Reassessing Pancreatectomy in Diffuse Congenital Hyperinsulinism: A Tale of 2 Brothers With Homozygous KCNJ11 Variants.

JCEM case reports
2025

Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism.

Med (New York, N.Y.)
2025

Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.

Frontiers in endocrinology
2025

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

Genome medicine
2024

Case Report: The importance of genetic counseling for families with hyperinsulinism.

Frontiers in pediatrics
2024

Case report: Kabuki syndrome and persistent hypoglycemia in neonates.

Journal of family medicine and primary care
2025

Congenital Hyperinsulinism and Long QT Syndrome Attributable to a Variant in KCNE1.

Hormone research in paediatrics
2024

Target deconvolution of an insulin hypersecretion-inducer acting through VDAC1 with a distinct transcriptomic signature in beta-cells.

bioRxiv : the preprint server for biology
2024

Reverse Phenotyping: Addressing Refractory Seizures From an Endocrine Perspective.

Cureus
2025

Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report.

Pediatric endocrinology, diabetes, and metabolism
2024

Congenital hyperinsulinism in the Ukraine: a 10-year national study.

Frontiers in endocrinology
2024

Case report: Duplication of the GCK gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.

Frontiers in endocrinology
2025

Management of Neonatal Hyperinsulinemic Hypoglycemia: Trends Over Nine Years.

Rhode Island medical journal (2013)
2025

Loss of β-Cell KATP Reduces Ca2+ Sensitivity of Insulin Secretion and Trpm5 Expression.

Diabetes
2024

Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene.

JCEM case reports
2024

Diazoxide toxicity in congenital hyperinsulinism: A case report.

World journal of clinical pediatrics
2024

A Focal Form of Diazoxide-resistant Congenital Hyperinsulinism with Good Response to Long-acting Somatostatin.

Journal of the ASEAN Federation of Endocrine Societies
2025

Persistent hypoglycemia in congenital syphilis: hyperinsulinemic hypoglycemia with a focal pancreatic lesion.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.

Clinical genetics
2025

Dasiglucagon in Children With Congenital Hyperinsulinism Up to 1 Year of Age: Results From a Randomized Clinical Trial.

The Journal of clinical endocrinology and metabolism
2024

Octreotide efficacy and safety in children with hyperinsulinism: evidence from two Chinese centers.

European journal of pediatrics
2025

Continuous Glucose Monitoring-Derived Glycemic Phenotyping of Childhood Hypoglycemia Due to Hyperinsulinism: A Year-long Prospective Nationwide Observational Study.

Journal of diabetes science and technology
2024

Occult Nesidioblastosis Detected by 111In-Pentetreotide Single-Photon Emission Computed Tomography.

Acta medica Okayama
2024

Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.

Hormone research in paediatrics
2025

The combination of next generation sequencing and technological devices allows a precision medicine approach in congenital hyperinsulinism: the case of a pregnant mother and the child she gave birth.

Acta diabetologica
2024

Nesidioblastosis in Pregnancy: Navigating the Diagnostic and Therapeutic Challenges of a Rare Condition.

Cureus
2024

Case report: A novel HNF1A variant linked to gestational diabetes, congenital hyperinsulinism, and diazoxide hypersensitivity.

Frontiers in endocrinology
2024

Update on the Role of [18F]FDOPA PET/CT.

Seminars in nuclear medicine
2025

Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.

The Journal of clinical endocrinology and metabolism
2024

Living Donor Liver Transplantation for Congenital Portosystemic Shunt Presenting With Hyperinsulinemic Hypoglycemia.

Pediatric transplantation
2025

Biomarkers and Diagnostic Thresholds for Congenital Hyperinsulinism.

Clinical endocrinology
2024

Continuous glucose monitoring in patients with inherited metabolic disorders at risk for Hypoglycemia and Nutritional implications.

Reviews in endocrine &amp; metabolic disorders
2025

Neonatal hyperinsulinism: a retrospective study of presentation and management in a tertiary neonatal intensive care unit in the UK.

Archives of disease in childhood. Fetal and neonatal edition
2024

Hyperinsulinemic Hypoglycemia Due to an Insulinoma in a 2-Year-Old Child.

JCEM case reports
2024

Novel ABCC8 mutation in the genetic diagnosis of familial hyperinsulinaemic hypoglycaemia.

BMJ case reports
2024

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Cellular &amp; molecular biology letters
2024

Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

A tale of two sisters - delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia.

Endocrinology, diabetes &amp; metabolism case reports
2024

A case of congenital hyperinsulinism presenting with diabetes after long-term diazoxide therapy.

Diabetology international
2025

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.

The Journal of clinical endocrinology and metabolism
2024

Infant of a diabetic mother: clinical presentation, diagnosis and treatment.

Pediatric endocrinology, diabetes, and metabolism
2024

Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2024

A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
2025

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

The Journal of clinical endocrinology and metabolism
2024

Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.

Frontiers in endocrinology
2024

Etiology of the Neonatal Hypoglycemias.

Advances in pediatrics
2025

The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease.

Hormone research in paediatrics
2024

Non-invasive quantification of stem cell-derived islet graft size and composition.

Diabetologia
2024

Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.

Journal of the Endocrine Society
2025

Congenital Hyperinsulinism of a Large Italian Cohort: A Retrospective Study.

Hormone research in paediatrics
2024

Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal-Perinatal Medicine Group.

Journal of clinical medicine
2024

Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.

International journal of molecular sciences
2024

Previously undiagnosed genetic disease in adult patient with hepatic masses and reported history of congenital hyperinsulinism.

BMJ case reports
2024

[Clinical characteristics and prognosis of 5 children with maturity onset of diabetes of the young 12 subtype].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

First Accuracy and User-Experience Evaluation of New Continuous Glucose Monitoring System for Hypoglycemia Due to Hyperinsulinism.

Journal of diabetes science and technology
2024

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.

European journal of human genetics : EJHG
2024

Congenital Hyperinsulinism - Notes for the General Pediatrician.

Indian pediatrics
2024

Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism.

BMJ open diabetes research &amp; care
2025

Idiopathic Pathological Ketotic Hypoglycemia: Finding the Needle in a Haystack.

Hormone research in paediatrics
2024

[Congenital hyperinsulinism : contributions of chemistry, therapeutic response, genetics and imaging].

Revue medicale de Liege
2024

Role of beta-hydroxybutyrate measurement in the evaluation of plasma glucose concentrations in newborn infants.

Archives of disease in childhood. Fetal and neonatal edition
2024

A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.

Diabetologia
2024

Focal and diffuse nesidioblastosis simulating insulinoma.

Medicina clinica
2026

Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion.

Journal of clinical research in pediatric endocrinology
2024

Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.

Histology and histopathology
2024

Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.

International journal of molecular sciences
2024

Adjuvant Alpelisib Therapy for Congenital Hyperinsulinism.

The New England journal of medicine
2024

Expert management of congenital portosystemic shunts and their complications.

JHEP reports : innovation in hepatology
2024

A synonymous KCNJ11 variant leading to MODY13: A case report and literature review.

Molecular genetics and metabolism reports
2024

Functional characterization of inactivating ABCC8 variants causing congenital hyperinsulinism.

Clinical genetics
2024

Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.

BMC endocrine disorders
2023

Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.

Medicine
2024

Nesidioblastosis and Subsequent Diabetes Mellitus in a Dog with Hyperinsulinemic Hypoglycemia Treated with Partial Pancreatectomy.

Journal of the American Animal Hospital Association
2024

Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2023

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review.

Frontiers in endocrinology
2025

Hypoglycemia in Children Referred to a Tertiary Care Pediatric Endocrine Clinic: Age-Dependent Etiological Variations.

Hormone research in paediatrics
2024

Dasiglucagon: A New Hope for Diazoxide-unresponsive, Nonfocal Congenital Hyperinsulinism?

The Journal of clinical endocrinology and metabolism
2023

Congenital hyperinsulinism.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
2024

Low-dose diazoxide is safe and effective in infants with transient hyperinsulinism.

Clinical endocrinology
2024

Low-dose diazoxide therapy in hyperinsulinaemic hypoglycaemia.

Clinical endocrinology
2023

Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.

Frontiers in endocrinology
2023

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.

Frontiers in endocrinology
2023

[Focal congenital hyperinsulinism].

Orvosi hetilap
2023

The use of CGM to identify hypoglycemia and glycemic patterns in congenital hyperinsulinism.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2023

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

Orphanet journal of rare diseases
2023

Challenges of a drug shortage.

Journal of pediatric nursing
2024

Dasiglucagon for the Treatment of Congenital Hyperinsulinism: A Randomized Phase 3 Trial in Infants and Children.

The Journal of clinical endocrinology and metabolism
2023

PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.

JIMD reports
2023

Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.

JCEM case reports
2023

Persistent Hypoglycemia and Hyperinsulinism in a Patient With KMT2D-Associated Kabuki Syndrome.

JCEM case reports
2023

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.

JCEM case reports
2023

Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of Germline Mutations in the MEN1 and ABCC8 Genes.

Genes
2024

Congenital hyperinsulinism and surgical outcome in a single tertiary center in Brazil.

Jornal de pediatria
2023

Circularity of islets is a distinct marker for the pathological diagnosis of adult non-neoplastic hyperinsulinemic hypoglycemia using surgical specimens.

Diagnostic pathology
2023

Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2023

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Molecular syndromology
2023

Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.

European journal of medical genetics
2023

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.

Diabetes
2023

The Rising Incidence of Hyperinsulinemic Hypoglycemia: Connection With Maternal Health.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2023

Reducing kidney uptake of radiolabelled exendin-4 using variants of the renally cleavable linker MVK.

EJNMMI radiopharmacy and chemistry
2023

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts.

Frontiers in endocrinology
2023

Insulin Signaling Through the Insulin Receptor Increases Linear Growth Through Effects on Bone and the GH-IGF-1 Axis.

The Journal of clinical endocrinology and metabolism
2023

The behaviour change behind a successful pilot of hypoglycaemia reduction with HYPO-CHEAT.

Digital health
2023

A Very Rare Case of Diabetes Mellitus Occurring in a Patient With Hyperinsulinism Hyperammonemia Syndrome.

AACE clinical case reports
2024

Novel Use of Dasiglucagon, a Soluble Glucagon Analog, for the Treatment of Hyperinsulinemic Hypoglycemia Secondary to Suspected Insulinoma: A Case Report.

Hormone research in paediatrics
2024

International Guidelines for the Diagnosis and Management of Hyperinsulinism.

Hormone research in paediatrics
2023

CL-705G: a novel chemical Kir6.2-specific KATP channel opener.

Frontiers in pharmacology
2023

Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid-sensitive hypoglycemia.

The Journal of biological chemistry
2023

An Uncommon Cause of Recurrent Presyncope, Dizziness, and Tachycardia: A Case Report of Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS).

Biomedicines
2023

Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia.

Biomedicines
2023

Neonatal hypoglycemia: lack of evidence for a safe management.

Frontiers in endocrinology
2023

Optimization of a Glucagon-Like Peptide 1 Receptor Antagonist Antibody for Treatment of Hyperinsulinism.

Diabetes
2023

A novel mutation in the KCNJ11 gene (p.Val36Glu), predisposes to congenital hyperinsulinemia.

Gene

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Hiperinsulinismo isolado congênito.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Hiperinsulinismo isolado congênito

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. [Exercise-induced hyperinsulinism: genetic basis and clinical management].
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics· 2026· PMID 41582760mais citado
  2. From Isolation to Support: A Parent's Journey with Congenital Hyperinsulinism.
    Indian pediatrics· 2026· PMID 41499030mais citado
  3. Adult-Onset Nesidioblastosis: A Challenging Diagnosis Revealed by Endoscopic Ultrasonography.
    The American journal of case reports· 2026· PMID 41877371mais citado
  4. Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8 Mutation.
    Cureus· 2026· PMID 41869142mais citado
  5. Pancreatectomy Outcomes in Pediatric Hyperinsulinism: A Retrospective Single-Center Experience.
    The Journal of surgical research· 2026· PMID 41832879mais citado
  6. [Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi· 2025· PMID 41811041recente
  7. Congenital isolated unilateral pulmonary artery agenesis: a case report and literature review.
    Front Cardiovasc Med· 2025· PMID 41567389recente
  8. IGF-I bioavailability in congenital isolated growth hormone deficiency.
    Eur J Endocrinol· 2026· PMID 41528724recente
  9. [Olfactory bulbs aplasia as a reason of isolated congenital anosmia in a 9-year-old child (clinical case)].
    Vestn Otorinolaringol· 2025· PMID 41456302recente
  10. Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency.
    J Pediatr Endocrinol Metab· 2026· PMID 40990269recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:657(Orphanet)
  2. MONDO:0019010(MONDO)
  3. GARD:3947(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q5160437(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Hiperinsulinismo isolado congênito
Compêndio · Raras BR

Hiperinsulinismo isolado congênito

ORPHA:657 · MONDO:0019010
Prevalência
Unknown
Herança
Autosomal dominant, Autosomal recessive
Ensaios
7 ativos
Medicamentos
5 registrados
Início
Childhood, Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0027773
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades