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Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.
Endocrine
November 2024
Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.
Article Synopsis
- Renal pseudohypoaldosteronism type 1 (PHA1) is a rare condition mainly affecting infants, resulting in symptoms like vomiting and weight loss due to dysfunctional mineralocorticoid receptors caused by gene variants in NR3C2.
- A study on four adults with PHA1 revealed they had elevated plasma aldosterone but normal sodium levels, with one individual showing increased plasma renin.
- The findings suggest that PHA1 is asymptomatic in adulthood, and individuals often have favorable long-term health outcomes.
Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.
Heliyon
November 2024
Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog (JPARC) - Lille Neuroscience and Cognition, F-59000, Lille, France.
Pseudohypoaldosteronism type II is a rare Mendelian disorder characterized by hypertension, hyperkalemia, hyperchloremia and metabolic acidosis, despite a normal glomerular filtration rate. Four genes (, , and ) are associated with this disease. Mutations in the gene cause pseudohypoaldosteronism type II in either an autosomal dominant or a recessive inheritance pattern.
View Article and Find Full Text PDFHyperkalaemic acidosis: blood pressure is the diagnostic clue.
Pediatr Nephrol
November 2024
Department of Pediatric Nephrology, University Hospital and Catholic University Leuven, Herestraat 49, 3000, Leuven, Belgium.
Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited condition of altered tubular salt handling. It is characterized by the specific constellation of hyperkalaemic hyporeninemic hypertension, hyperchloremic metabolic acidosis and hypercalciuria. Molecular genetic testing confirms the diagnosis in the majority of cases.
View Article and Find Full Text PDFPulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.
Paediatr Respir Rev
September 2024
Division of Pediatric Pulmonology, First Department of Pediatrics, National and Kapodistrian University of Athens, School of Medicine and Agia, Sofia Children's Hospital, Athens, Greece.
Introduction: Pseudohypoaldosteronism type 1b (PHA1B) is a rare autosomal recessive disease caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaC), that might present with a wide variety of pulmonary symptoms.
Methods: We provide a systematic review of published cases with PHA1B and respiratory symptoms, adding a relevant case from our clinic.
Results: Thirty-seven publications presenting 61 cases were identified apart from our case.
Pseudohypoaldosteronism type 1 (PHA1) is a rare, heterogeneous group of disorders characterized by resistance to aldosterone action. We report the case of a 17-day-old Saudi female infant who presented on the third day of life with persistent hyperkalemia, hyponatremia, and metabolic acidosis. Initial evaluation for congenital adrenal hyperplasia was unremarkable.
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