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Hemocromatose neonatal
ORPHA:446CID-10 · E83.1CID-11 · 5C64.10OMIM 231100PCDT · SUSDOENÇA RARA

A hemocromatose neonatal é uma doença em que o corpo acumula ferro demais. Nesta forma de hemocromatose, o excesso de ferro começa antes do nascimento. Essa doença costuma piorar rapidamente e causa problemas no fígado que são visíveis no nascimento ou no primeiro dia de vida. Existem também outras formas de hemocromatose. Para saber mais sobre essas outras formas, clique nos nomes das doenças listadas abaixo: Hemocromatose tipo 1 Hemocromatose tipo 2 Hemocromatose tipo 3 Hemocromatose tipo 4

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A hemocromatose neonatal é uma doença em que o corpo acumula ferro demais. Nesta forma de hemocromatose, o excesso de ferro começa antes do nascimento. Essa doença costuma piorar rapidamente e causa problemas no fígado que são visíveis no nascimento ou no primeiro dia de vida. Existem também outras formas de hemocromatose. Para saber mais sobre essas outras formas, clique nos nomes das doenças listadas abaixo: Hemocromatose tipo 1 Hemocromatose tipo 2 Hemocromatose tipo 3 Hemocromatose tipo 4

Publicações científicas
227 artigos
Último publicado: 2026 Apr 5

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
35
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponívelCentros em: PA, PE, BA, RN, DF +8CID-10: E83.1
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Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
6 sintomas
😀
Face
2 sintomas
📏
Crescimento
2 sintomas
🫘
Rins
1 sintomas
🛡️
Imunológico
1 sintomas
🩸
Sangue
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

90%prev.
Localização anormal do rim
Muito frequente (99-80%)
90%prev.
Micrognatia
Muito frequente (99-80%)
90%prev.
Aumento do ferro sérico
Muito frequente (99-80%)
90%prev.
Aumento da concentração circulante de ferritina
Muito frequente (99-80%)
90%prev.
Aplasia/Hipoplasia dos mamilos
Muito frequente (99-80%)
90%prev.
Hipoglicemia
Muito frequente (99-80%)
24sintomas
Muito frequente (11)
Sem dados (13)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

Localização anormal do rimAbnormal localization of kidney
Muito frequente (99-80%)90%
MicrognatiaMicrognathia
Muito frequente (99-80%)90%
Aumento do ferro séricoIncreased serum iron
Muito frequente (99-80%)90%
Aumento da concentração circulante de ferritinaIncreased circulating ferritin concentration
Muito frequente (99-80%)90%
Aplasia/Hipoplasia dos mamilosAplasia/Hypoplasia of the nipples
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico227PubMed
Últimos 10 anos99publicações
Pico201915 papers
Linha do tempo
2026Hoje · 2026🧪 1978Primeiro ensaio clínico📈 2019Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Hemocromatose neonatal

Centros de Referência SUS

21 centros habilitados pelo SUS para Hemocromatose neonatal

Centros para Hemocromatose neonatal

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 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 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

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

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 de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

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 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 Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

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 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

Instituto da Criança e do Adolescente (ICr-HCFMUSP)

Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695

Serviço de Referência

Rota
Erros Inatos do Metabolismo

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

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
73 papers (10 anos)
#1

Gestational alloimmune liver disease reconsidered: Advocating for a new nomenclature and enhanced diagnosis accuracy.

World journal of clinical pediatrics2025 Dec 09

Gestational alloimmune liver disease (GALD), previously known as neonatal hemochromatosis, is a rare antenatal immune condition in which maternal antibodies target the fetal liver, leading to a spectrum of liver injury. Although GALD in the leading cause of neonatal liver failure, recent evidence highlights its association with milder phenotypes. A maternal history of miscarriages or stillbirths may be present. GALD is characterized by hepatic and extrahepatic iron overload sparing the reticuloendothelial system. The transferrin saturation coefficient is the most reliable marker of iron overload, and salivary gland biopsy may assist in diagnosis. Early recognition is crucial, as GALD is treatable. Management involves both acute neonatal treatment and preventive strategies for future pregnancies. Recurrence may reach 90% but can be effectively prevented with antenatal intravenous immunoglobulin therapy. We report four cases of GALD managed in gastroenterology unit of the Sainte-Justine center in Montreal, Canada. A literature review was also conducted to explore the etiopathogenesis, diagnosis, treatment options, and outcomes of the GALD. A total of 39 studies published between 2008 and 2024 were identified through PubMed, Google Scholar, and EMBASE using the terms "gestational alloimmune liver disease" and "neonatal hemochromatosis".

#2

Intrauterine high-dose intravenous immunoglobulin therapy during pregnancy for women with a history of pregnancy ending in documented neonatal haemochromatosis (NH001): study protocol.

BMJ open2025 Sep 30

Neonatal haemochromatosis, considered to be a gestational alloimmune liver disease (NH-GALD), is a rare but serious disease that results in fulminant hepatic failure. The recurrence rate of NH-GALD in a subsequent infant of a mother with an affected infant is 70%-90%. Recently, antenatal maternal high-dose intravenous immunoglobulin (IVIG) therapy has been reported as being effective for preventing recurrence of NH-GALD in a subsequent infant. However, no clinical trial has been conducted to date. This is a multicentre open-label, single-arm study of antenatal maternal high-dose IVIG therapy in pregnant women with a history of documented NH in a previous offspring. The objective of this study is to evaluate the efficacy and safety of antenatal maternal high-dose IVIG therapy in preventing or reducing the severity of alloimmune injury to the fetal liver. The clinical trial is being performed in accordance with the Declaration of Helsinki. The trial protocol was approved by the Clinical Research Review Board at four hospitals. Before enrolment, written informed consent would be obtained from eligible pregnant women. The results are expected to be published in a scientific journal. 28 October 2024, V.8.0. jRCT1091220353.

#3

Correction: Neonatal Lupus presenting with neonatal hemochromatosis-like liver disease that responded to steroids: a case report.

BMC pediatrics2025 Jun 21
#4

Maternal Immunoglobulin Treatment of Gestational Alloimmune Liver Disease to Prevent Neonatal Liver Failure: A Single Center Case Series.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie2025 Dec

Gestational alloimmune liver disease (GALD), previously known as neonatal hemochromatosis, is a rare maternal-fetal alloimmune disease causing severe fetal-neonatal liver failure. Understanding the immunological origin resulted in the concept of treatment with high-dose intravenous immunoglobins (IVIG) during gestation. This retrospective single-center cohort study consists of seven women with index cases of GALD, followed by a total of ten IVIG-treated singleton pregnancies. Out of seven index pregnancies, five resulted in neonatal deaths. In a total of ten subsequent pregnancies all seven women at risk received antenatal IVIG (1g/kg body weight weekly) starting at median 14 weeks of gestation. Pregnancy courses were uneventful, except for one case of fetal growth restriction and preterm delivery due to severe preeclampsia. No severe maternal adverse effects of repetitive IVIG (median 23 applications) were observed. None of the infants from IVIG-treated women developed severe GALD. Two out of ten neonates displayed slightly abnormal laboratory parameters but did not require exchange transfusion or any other specific treatment. Based on standard laboratory data, we developed a scoring method to identify neonates at risk for GALD-associated liver failure. This case series indicates that weekly antenatal IVIG treatment is highly efficient to prevent GALD-associated neonatal liver failure. In contrast to other cases series, there were no major maternal side effects. An introduced novel laboratory scoring system to decide on early postnatal intervention requires validation in a larger number of neonates.

#5

Successful IVIG Treatment in Neonatal Hemochromatosis Without Extrahepatic Siderosis: A Case Report.

Reports (MDPI)2025 Apr 23

Background and Clinical Significance: Neonatal hemochromatosis is a rare iron overload disorder that causes severe liver injury in newborns, typically with extrahepatic siderosis. Diagnosis of neonatal hemochromatosis is usually confirmed through a biopsy and MRI, demonstrating deposition of iron and liver failure. However, in severe patients who are not able to undergo biopsy, the diagnostic and management method remains unknown. Case Presentation: We present an unusual case of neonatal hemochromatosis without extrahepatic iron deposition in a 9-day-old male who showed signs of liver failure and respiratory distress. This case suggests that when the risks of biopsy outweigh its benefits, a diagnosis may be reached based on clinical evaluation and MRI findings. Early high-dose intravenous immunoglobulin therapy improved liver function and led to recovery, highlighting the need for early therapeutic intervention in neonatal hemochromatosis. Conclusions: This case highlights that the absence of extrahepatic siderosis cannot exclude a diagnosis of neonatal hemochromatosis, and high doses of IVIG should be administered promptly when neonatal hemochromatosis is suspected to maximize therapeutic effectiveness.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC146 artigos no totalmostrando 96

2025

Maternal Immunoglobulin Treatment of Gestational Alloimmune Liver Disease to Prevent Neonatal Liver Failure: A Single Center Case Series.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie
2025

Gestational alloimmune liver disease reconsidered: Advocating for a new nomenclature and enhanced diagnosis accuracy.

World journal of clinical pediatrics
2025

Intrauterine high-dose intravenous immunoglobulin therapy during pregnancy for women with a history of pregnancy ending in documented neonatal haemochromatosis (NH001): study protocol.

BMJ open
2025

Successful IVIG Treatment in Neonatal Hemochromatosis Without Extrahepatic Siderosis: A Case Report.

Reports (MDPI)
2025

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis.

Human genome variation
2025

The Effect of Prolonged Antenatal Intravenous Immunoglobulin Treatment in Preventing Gestational Alloimmune Liver Disease-A Case Series with Literature Review.

AJP reports
2024

Neonatal Liver Imaging: Techniques, Role of Imaging, and Indications.

Radiographics : a review publication of the Radiological Society of North America, Inc
2024

A Rare Afferent Loop Syndrome Case in Adulthood Following Liver Transplantation in Neonatal Hemochromatosis.

Gastro hep advances
2024

Successful living-donor liver transplantation for neonatal hemochromatosis due to transient abnormal myelopoiesis with Down syndrome: Case report and review of the literature.

Pediatric blood &amp; cancer
2024

Unique presentation of neonatal liver failure: A case report.

World journal of clinical pediatrics
2024

Clinical characteristics and outcomes of acute liver failure in neonates: a retrospective cohort in China.

European journal of pediatrics
2024

Gestational alloimmune liver disease with alpha thalassaemia in a neonate.

BMJ case reports
2023

Cascade N2 Reduction Process with DBD Plasma Oxidation and Electrocatalytic Reduction for Continuous Ammonia Synthesis.

Environmental science &amp; technology
2023

[Association of giant cell hepatitis and autoimmune hemolytic anemia in infancy].

Orvosi hetilap
2023

Postinfantile Giant Cell Hepatitis in Native and Allograft Livers: A Multi-Institutional Clinicopathologic Study of 70 Cases.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2024

Striking Cholestatic Giant Cell Hepatitis Resulting in Fulminant Liver Failure After Garcinia Cambogia Use.

International journal of surgical pathology
2023

Identifying the Aetiology of Acute Liver Failure Is Crucial to Impact Positively on Outcome.

Children (Basel, Switzerland)
2023

Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings-Is There a Place for MRI in the Diagnostic Process?

Journal of clinical medicine
2023

Premature birth associated with a favorable course in gestational alloimmune liver disease (GALD): A case report.

Frontiers in pediatrics
2023

A rare case of neonatal hemochromatosis.

Asian journal of surgery
2022

Gestational Alloimune Liver Disease-Case Report.

Children (Basel, Switzerland)
2023

Diagnostic Value of Serum Gamma Glutamyl Transpeptidase (GGT) for Early Diagnosis of Biliary Atresia.

Mymensingh medical journal : MMJ
2022

Effectiveness of High-Volume Therapeutic Plasma Exchange for Acute and Acute-on-Chronic Liver Failure in Korean Pediatric Patients.

Pediatric gastroenterology, hepatology &amp; nutrition
2022

Neonatal Lupus presenting with neonatal hemochromatosis-like liver disease that responded to steroids: a case report.

BMC pediatrics
2022

Neonatal hemochromatosis with εγδβ-thalassemia: a case report and analysis of serum iron regulators.

BMC pediatrics
2022

Gestational alloimmune liver disease treated with exchange transfusion and intravenous immunoglobulin: A case study.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2021

Chelation therapy in liver diseases of childhood: Current status and response.

World journal of hepatology
2022

Hemolysis in Early Infancy: Still a Cause of Cholestatic Neonatal Giant Cell Hepatitis.

The American journal of surgical pathology
2021

Non-invasive alloimmune risk stratification of long-term liver transplant recipients.

Journal of hepatology
2021

Postinfantile giant cell hepatitis in the setting of autoimmune hepatitis: exclusively a histological pattern or a prognosis predictor?

BMJ case reports
2021

Acute liver failure in newborns.

Turkish archives of pediatrics
2021

Efficacy of Intravenous Immunoglobulin/Exchange Transfusion Therapy on Gestational Alloimmune Liver Disease.

Frontiers in pediatrics
2021

The Effect of Prenatal and Postnatal Treatment with Intravenous Immunoglobulin on Severity of Neonatal Hemochromatosis: The Tale of Two Brothers (Case Report).

AJP reports
2021

The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2021

Living donor liver transplantation for small infants aged less than 6 months: The experience of a single institute.

Journal of pediatric surgery
2021

Neonatal hepatitis B vaccination protects mature adults from occult virus infection.

Hepatology international
2022

Magnetic resonance imaging of neonatal hemochromatosis.

Pediatric radiology
2021

Applying an Age-specific Definition to Better Characterize Etiologies and Outcomes in Neonatal Acute Liver Failure.

Journal of pediatric gastroenterology and nutrition
2021

PIGA Mutations Can Mimic Neonatal Hemochromatosis.

Pediatrics
2021

[An updated advance of autoimmune hepatitis in children].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2021

[A case of idiopathic postinfantile giant cell hepatitis treated with a calcineurin inhibitor].

Deutsche medizinische Wochenschrift (1946)
2020

Intravenous Immune Globulin Uses in the Fetus and Neonate: A Review.

Antibodies (Basel, Switzerland)
2021

Usefulness of dual gradient-echo MR imaging for the prenatal diagnosis of gestational alloimmune disease.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2020

Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.

Indian pediatrics
2020

Neonatal hemochromatosis: A rare cause of liver failure in infancy.

Indian journal of pathology &amp; microbiology
2020

Liver Failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome.

Journal of pediatric gastroenterology and nutrition
2021

Hepatitis B virus seroprevalence among HIV-infected patients receiving combination antiretroviral therapy three decades after universal neonatal hepatitis B immunization program in Taiwan.

Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi
2020

The fragmented red cell count can support the diagnosis of a microangiopathic neonatal condition.

Journal of perinatology : official journal of the California Perinatal Association
2019

Letter: decreased neonatal hepatitis B virus (HBV) viremia by maternal tenofovir treatment predicts reduced chronic HBV infection in children born to highly viremic mothers.

Alimentary pharmacology &amp; therapeutics
2020

Managing the Unusual Causes of Fetal Anemia.

Fetal diagnosis and therapy
2019

Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis.

Pediatric hematology and oncology
2019

Sub-acute neonatal hemochromatosis in an infant with hypoplastic left heart syndrome on ventricular assist device awaiting transplantation.

Pediatric transplantation
2019

Neonatal hemochromatosis associated with rupture of esophageal varices.

Pediatrics international : official journal of the Japan Pediatric Society
2020

Neonatal hemochromatosis in a newborn with Down syndrome.

Fetal and pediatric pathology
2019

CLL associated giant cell hepatitis.

Leukemia research
2019

Management of giant cell hepatitis associated with chronic lymphocytic leukemia - a case series and review of the literature.

Cancer biology &amp; therapy
2019

Pediatric liver transplantation for neonatal-onset Niemann-Pick disease type C: Japanese multicenter experience.

Pediatric transplantation
2020

B-cell depletion induces prolonged remission in patients with giant cell hepatitis and autoimmune hemolytic anemia.

Clinics and research in hepatology and gastroenterology
2019

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis.

Brain &amp; development
2018

Gestational Alloimmune Liver Disease: A Case Study.

Neonatal network : NN
2019

Prenatal imaging features suggestive of liver gestational allo immune disease.

Journal of gynecology obstetrics and human reproduction
2018

Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins.

AJP reports
2019

Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis.

Journal of clinical ultrasound : JCU
2019

Prognostic parameters of pediatric acute liver failure and the role of plasma exchange.

Pediatrics and neonatology
2019

[Neonatal haemochromatosis: 10 years into a paradigm shift].

Anales de pediatria
2019

Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation.

Clinical and molecular hepatology
2020

Broadening the spectrum of neonatal hemochromatosis.

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
2020

The Japanese experience and pharmacokinetics of antenatal maternal high-dose immunoglobulin treatment as a prophylaxis for neonatal hemochromatosis in siblings.

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
2018

Liver Failure and Conjugated Hyperbilirubinemia in a Preterm Neonate: Role of Early IVIG and Exchange Transfusion.

AJP reports
2018

The Effects of Gestational Alloimmune Liver Disease on Fetal and Infant Morbidity and Mortality.

The Journal of pediatrics
2017

Disparate clinical findings in monochorionic twins with neonatal hemochromatosis.

Pediatrics international : official journal of the Japan Pediatric Society
2018

Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis.

Journal of pediatric gastroenterology and nutrition
2017

Rescue case of low birth weight infant with acute hepatic failure.

World journal of gastroenterology
2018

Antenatal Treatment with Intravenous Immunoglobulin to Prevent Gestational Alloimmune Liver Disease: Comparative Effectiveness of 14-Week versus 18-Week Initiation.

Fetal diagnosis and therapy
2017

Presenting Features and Prognosis of Ischemic and Nonischemic Neonatal Liver Failure.

Journal of pediatric gastroenterology and nutrition
2017

[Liver failure in neonatal children is a diagnostic challenge].

Ugeskrift for laeger
2017

Neonatal acute liver failure: a diagnosis challenge.

Archivos argentinos de pediatria
2017

Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review.

Case reports in pediatrics
2017

Neonatal Hemochromatosis: Blitz Diagnosis Results in Favorable Outcome.

The Journal of pediatrics
2017

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.

Pediatric research
2016

An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis.

Placenta
2016

[Gestational alloimmune liver disease: a case report].

Archivos argentinos de pediatria
2016

Antenatal immunoglobulin for prevention of neonatal hemochromatosis.

Pediatrics international : official journal of the Japan Pediatric Society
2016

Gestational Alloimmune Liver Disease: A Devastating Condition Preventable With Maternal Intravenous Immunoglobulin.

Obstetrics and gynecology
2016

Fetal Magnetic Resonance Imaging Detection of Liver Iron Deposition in Neonatal Hemochromatosis During Prenatal Therapy.

Journal of pediatric gastroenterology and nutrition
2016

Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis.

Pediatric gastroenterology, hepatology &amp; nutrition
2016

Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED.

Journal of pediatric gastroenterology and nutrition
2016

Iron Overload Coordinately Promotes Ferritin Expression and Fat Accumulation in Caenorhabditis elegans.

Genetics
2017

Liver Failure in Early Infancy: Aetiology, Presentation, and Outcome.

Journal of pediatric gastroenterology and nutrition
2016

Case 1: Oral Mucosal Bleeding in a 2-day-old Boy.

Pediatrics in review
2015

Neonatal hemochromatosis in monochorionic twins.

Journal of neonatal-perinatal medicine
2015

Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant.

Clinical case reports
2015

[Neonatal hemochromatosis: Another entity that is no longer orphan. Advances in the diagnosis and management of the main cause of neonatal acute liver failure].

Anales de pediatria (Barcelona, Spain : 2003)
2015

Gestational autoimmune disease in newborns with an indeterminate cause of death following a complete autopsy.

Journal of neonatal-perinatal medicine
2015

Review of fetal and neonatal immune cytopenias.

Clinical advances in hematology &amp; oncology : H&amp;O
2015

Liver transplantation for neonatal hemochromatosis: analysis of the UNOS database.

Pediatric transplantation
Ver todos os 146 no EuropePMC

Associações

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Comunidades

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Ainda não existe comunidade no Raras para Hemocromatose neonatal

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Doenças relacionadas

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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. Gestational alloimmune liver disease reconsidered: Advocating for a new nomenclature and enhanced diagnosis accuracy.
    World journal of clinical pediatrics· 2025· PMID 41255696mais citado
  2. Intrauterine high-dose intravenous immunoglobulin therapy during pregnancy for women with a history of pregnancy ending in documented neonatal haemochromatosis (NH001): study protocol.
    BMJ open· 2025· PMID 41033776mais citado
  3. Correction: Neonatal Lupus presenting with neonatal hemochromatosis-like liver disease that responded to steroids: a case report.
    BMC pediatrics· 2025· PMID 40544286mais citado
  4. Maternal Immunoglobulin Treatment of Gestational Alloimmune Liver Disease to Prevent Neonatal Liver Failure: A Single Center Case Series.
    Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie· 2025· PMID 41368233mais citado
  5. Successful IVIG Treatment in Neonatal Hemochromatosis Without Extrahepatic Siderosis: A Case Report.
    Reports (MDPI)· 2025· PMID 40710844mais citado
  6. Severe Congenital Systemic Juvenile Xanthogranuloma With Neonatal Acute Liver Failure, Neonatal Hemochromatosis and Placental Infiltration.
    Pediatr Blood Cancer· 2026· PMID 41935961recente
  7. A Non-Fetal Chronic Residual Inflammatory Liver Phenotype After Transient Abnormal Myelopoiesis in Down Syndrome.
    Pediatr Blood Cancer· 2026· PMID 41889119recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:446(Orphanet)
  2. OMIM OMIM:231100(OMIM)
  3. MONDO:0009275(MONDO)
  4. Sobrecarga de Ferro — Hemocromatose Hereditaria(PCDT · Ministério da Saúde)
  5. GARD:7172(GARD (NIH))
  6. Busca completa no PubMed(PubMed)
  7. Q1627324(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

Hemocromatose neonatal
Compêndio · Raras BR

Hemocromatose neonatal

ORPHA:446 · MONDO:0009275
🇧🇷 Brasil SUS
Geral
Prevalência
<1 / 1 000 000
Casos
35 casos conhecidos
Herança
Autosomal recessive
CID-10
E83.1 · Doença do metabolismo do ferro
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0027613
EuropePMC
Wikidata
Papers 10a
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