O pseudohipoaldosteronismo generalizado tipo 1 (PHA1 generalizado) é uma condição grave onde o corpo não consegue usar bem certos hormônios (os mineralocorticoides), o que afeta o corpo todo e causa perda de sal em vários órgãos.
Introdução
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O pseudohipoaldosteronismo generalizado tipo 1 (PHA1 generalizado) é uma condição grave onde o corpo não consegue usar bem certos hormônios (os mineralocorticoides), o que afeta o corpo todo e causa perda de sal em vários órgãos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 17 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7762608, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190). It plays a key role in maintaining sodium homeostasis through
Apical cell membraneCytoplasmic vesicle membrane
Pseudohypoaldosteronism 1B2, autosomal recessive
A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:8023962, PubMed:8278374, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190, PubMed:28710092, PubMed:8278374). It plays a ke
Apical cell membraneCell projection, ciliumCytoplasmic granuleCytoplasmCytoplasmic vesicle, secretory vesicle, acrosomeCell projection, cilium, flagellum
Pseudohypoaldosteronism 1B1, autosomal recessive
A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7550319, PubMed:7762608, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190). It plays a key role in maintaining sodium home
Apical cell membrane
Liddle syndrome 2
A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
Variantes genéticas (ClinVar)
281 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Pseudohipoaldosteronismo tipo 1 generalizado
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Outros ensaios clínicos
Publicações mais relevantes
Pseudohypoaldosterism: demystification using network medicine and proposed diagnostic panels.
Este estudo desmistifica o pseudohipoaldosteronismo (PHA), uma doença renal rara e hereditária que causa desequilíbrios eletrolíticos graves em bebês, ao revelar que é um "distúrbio de rede" complexo, envolvendo a interação de múltiplos genes e não apenas mutações isoladas. Para médicos e pacientes, essa nova compreensão aprofunda o conhecimento da doença e leva à proposição de novos painéis de diagnóstico (PHA-X e PHA-4T), prometendo maior precisão no diagnóstico e abrindo caminho para o desenvolvimento de terapias mais eficazes.
🇧🇷 traduzidoDiagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2.
Este artigo enfatiza que o pseudohipoaldosteronismo tipo 2 (PHA2), uma condição rara que causa hipertensão, potássio elevado e acidose, pode ser inicialmente mal diagnosticado, tornando essencial uma abordagem diagnóstica completa, incluindo testes genéticos avançados. O diagnóstico precoce e preciso é crucial para evitar sérios problemas de crescimento e desenvolvimento em crianças. A boa notícia é que, mesmo em casos severos, o tratamento com diuréticos tiazídicos é altamente eficaz para normalizar os desequilíbrios eletrolíticos, controlar a pressão arterial e assegurar o crescimento e desenvolvimento normais.
🇧🇷 traduzidoTransient pseudohypoaldosteronism type I in infants with urinary tract infections and/or uropathy: insights from a French multicenter cohort.
O pseudohipoaldosteronismo transitório tipo 1 é uma condição pouco reconhecida que afeta bebês menores de um ano (especialmente nos primeiros 6 meses) durante infecções do trato urinário (ITUs) agudas e/ou malformações renais (uropatias obstrutivas). Caracteriza-se por hyponatremia, hiperkalemia e acidose metabólica, exigindo que médicos considerem prontamente este diagnóstico em lactentes com piora do estado geral e desequilíbrios eletrolíticos nesse contexto. O tratamento é principalmente sintomático, com hidratação, correção dos eletrólitos e antibioticoterapia, e a condição é transitória.
🇧🇷 traduzidoAutosomal recessive (type 1B) pseudohypoaldosteronism: a novel mutation and its management.
O Pseudohipoaldosteronismo tipo 1B é uma doença genética rara caracterizada pela resistência à aldosterona, que leva a graves desequilíbrios eletrolíticos. Pacientes e médicos devem estar cientes dos sintomas principais – perda de sal, hipercalemia e acidose metabólica, que podem incluir erupções cutâneas – e da dificuldade no diagnóstico e manejo, devido aos frequentes desequilíbrios que exigem acompanhamento contínuo.
🇧🇷 traduzidoLong-Term Immune Alterations After Thymectomy in Early Childhood: A Case Series.
Este estudo de caso revela que a remoção do timo (timectomia) na primeira infância, frequentemente realizada durante cirurgias cardíacas, causa alterações imunológicas significativas e duradouras, caracterizadas por baixas contagens de células T CD4 virgens. Essas alterações podem manifestar-se de diversas formas, desde infecções virais recorrentes a problemas imunológicos graves (como citopenias e condições autoimunes), sendo mais severas quando a timectomia ocorre no período neonatal. Portanto, é crucial que estas crianças recebam monitoramento imunológico contínuo para antecipar e gerenciar possíveis complicações.
🇧🇷 traduzidoPublicações recentes
Collapse of Immune Privilege in the Sweat Gland in a Sjögren Disease Patient With Generalized Anhidrosis.
A zero-inflated hierarchical generalized transformation model to address non-normality in spatially-informed cell-type deconvolution.
Unusual Presentation of Pustular Psoriasis on the Face: A Case Report.
Enterococcus faecalis Bacteremia Following Transurethral Resection of the Prostate (TURP): Urinary Sepsis or Infective Endocarditis?
Spinal Cord Stimulation for Chronic Pelvic Pain Secondary to Oncologic Complications: A Case Report.
📚 EuropePMCmostrando 61
Pseudohypoaldosterism: demystification using network medicine and proposed diagnostic panels.
Hormones (Athens, Greece)Diagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2.
Journal of pediatric endocrinology & metabolism : JPEMLong-Term Immune Alterations After Thymectomy in Early Childhood: A Case Series.
CureusTransient pseudohypoaldosteronism type I in infants with urinary tract infections and/or uropathy: insights from a French multicenter cohort.
European journal of pediatricsHypertension and hyperkalemia associated with Pro701Leu mutation in the NR3C2 gene: A case report.
MedicineAutosomal recessive (type 1B) pseudohypoaldosteronism: a novel mutation and its management.
BMJ case reportsRefractory Hyperkalemia With Type 4 Renal Tubular Acidosis Associated With Tubulointerstitial Nephritis and Renal Papillary Necrosis Following Intravenous Lipid Emulsion Therapy in a Cat.
Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)Kidney involvement during the course of febrile urinary tract infection.
Pediatric nephrology (Berlin, Germany)The evolving concepts of KS-WNK1 effect on NCC activity.
American journal of physiology. Renal physiologyPseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.
HeliyonPrevalence of and factors associated with Na + /K + imbalances in a population of children hospitalized with febrile urinary tract infection.
European journal of pediatricsPrevalence of Hyperkalemia and Familial Hyperkalemic Hypertension in 5100 Patients Referred to a Tertiary Hypertension Unit.
Hypertension (Dallas, Tex. : 1979)Pseudohypoaldosteronism Type 1B and Cohen Syndrome: Novel Mutation, Unusual Combination, and Presentation.
CureusNR3C2 microdeletions-an underrecognized cause of pseudohypoaldosteronism type 1A: a case report and literature review.
Laboratory medicineDysregulation of the WNK4-SPAK/OSR1 pathway has a minor effect on baseline NKCC2 phosphorylation.
American journal of physiology. Renal physiologyAssociation of Familial Hyperkalemia and Hypertension with Proximal Renal Tubular Acidosis and Epileptic Seizures.
NephronThe Epithelial Sodium Channel-An Underestimated Drug Target.
International journal of molecular sciences[Regulation of kidney on potassium balance and its clinical significance].
Sheng li xue bao : [Acta physiologica Sinica]Early-in-Life Serum Aldosterone Levels Could Predict Surgery in Patients with Obstructive Congenital Anomalies of the Kidney and Urinary Tract: A Pilot Study.
Journal of clinical medicineThe Post-Translational Modification Networking in WNK-Centric Hypertension Regulation and Electrolyte Homeostasis.
BiomedicinesGeneration and analysis of pseudohypoaldosteronism type II knock-in mice caused by a nonsense KLHL3 mutation in the Kelch domain.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyClaudins in kidney health and disease.
Kidney research and clinical practiceCombined Kelch-like 3 and Cullin 3 Degradation is a Central Mechanism in Familial Hyperkalemic Hypertension in Mice.
Journal of the American Society of Nephrology : JASNMonogenic forms of low-renin hypertension: clinical and molecular insights.
Pediatric nephrology (Berlin, Germany)Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.
Italian journal of pediatricsTransient Pseudohypoaldosteronism Secondary to Group B Streptococcus Pyelonephritis.
CureusClinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
European journal of endocrinologyRole of KLHL3 and dietary K+ in regulating KS-WNK1 expression.
American journal of physiology. Renal physiologyRenin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene.
The Journal of steroid biochemistry and molecular biologyMutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.
The Journal of clinical investigationWNK1-OSR1/SPAK KINASE CASCADE IS IMPORTANT FOR ANGIOGENESIS.
Transactions of the American Clinical and Climatological AssociationFamilial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene.
Nephrology (Carlton, Vic.)Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery.
Journal of nephrologyDietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.
CEN case reportsPhenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
Journal of pediatric endocrinology & metabolism : JPEMA familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.
Molecular genetics & genomic medicineComplete clinical resolution of a Japanese family with renal pseudohypoaldosteronism type 1 due to a novel NR3C2 mutation.
Nephrology (Carlton, Vic.)WNK4 kinase is a physiological intracellular chloride sensor.
Proceedings of the National Academy of Sciences of the United States of AmericaRenal COP9 Signalosome Deficiency Alters CUL3-KLHL3-WNK Signaling Pathway.
Journal of the American Society of Nephrology : JASNGeneration and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyDecreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo.
Clinical and experimental nephrologyPseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPMutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.
JCI insightTransient Pseudohypoaldosteronism Caused by Intestinal Abnormalities.
Klinische PadiatrieLoss of β Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice.
The American journal of pathologyClinical features and molecular basis of pseudohypoaldosteronism type 1.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyWNK4 is indispensable for the pathogenesis of pseudohypoaldosteronism type II caused by mutant KLHL3.
Biochemical and biophysical research communicationsImpaired degradation of medullary WNK4 in the kidneys of KLHL2 knockout mice.
Biochemical and biophysical research communications30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
The Journal of endocrinologyExpression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.
Histochemistry and cell biologyKLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3.
Molecular and cellular biologySecondary or Transient Pseudohypoaldosteronism Associated With Urinary Tract Anomaly and Urinary Infection: A Case Report.
Urology case reportsPotential Roles of Amiloride-Sensitive Sodium Channels in Cancer Development.
BioMed research internationalAdult nephron-specific MR-deficient mice develop a severe renal PHA-1 phenotype.
Pflugers Archiv : European journal of physiologySevere Salt-Losing Syndrome and Hyperkalemia Induced by Adult Nephron-Specific Knockout of the Epithelial Sodium Channel α-Subunit.
Journal of the American Society of Nephrology : JASNA neonate with poor weight gain and hyperkalemia: Answers.
Pediatric nephrology (Berlin, Germany)A neonate with poor weight gain and hyperkalemia: Questions.
Pediatric nephrology (Berlin, Germany)Reducing αENaC expression in the kidney connecting tubule induces pseudohypoaldosteronism type 1 symptoms during K+ loading.
American journal of physiology. Renal physiologyGeneration and analysis of knock-in mice carrying pseudohypoaldosteronism type II-causing mutations in the cullin 3 gene.
Biology open[Electrolyte disorders as a hallmark of monogenetic diseases].
Der InternistA unifying mechanism for WNK kinase regulation of sodium-chloride cotransporter.
Pflugers Archiv : European journal of physiologyAssociações
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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.
- Pseudohypoaldosterism: demystification using network medicine and proposed diagnostic panels.
- Diagnostic pitfalls in aldosterone defects: a 9-year follow-up of early-onset pseudohypoaldosteronism type 2.
- Transient pseudohypoaldosteronism type I in infants with urinary tract infections and/or uropathy: insights from a French multicenter cohort.
- Autosomal recessive (type 1B) pseudohypoaldosteronism: a novel mutation and its management.
- Long-Term Immune Alterations After Thymectomy in Early Childhood: A Case Series.
- Collapse of Immune Privilege in the Sweat Gland in a Sjögren Disease Patient With Generalized Anhidrosis.
- A zero-inflated hierarchical generalized transformation model to address non-normality in spatially-informed cell-type deconvolution.
- Unusual Presentation of Pustular Psoriasis on the Face: A Case Report.
- Enterococcus faecalis Bacteremia Following Transurethral Resection of the Prostate (TURP): Urinary Sepsis or Infective Endocarditis?
- Spinal Cord Stimulation for Chronic Pelvic Pain Secondary to Oncologic Complications: A Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:171876(Orphanet)
- OMIM OMIM:264350(OMIM)
- MONDO:0009917(MONDO)
- GARD:4552(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q32136454(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.
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