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Neonatal pseudo-hypoaldosteronism type 1 with a novel gene variant.
Sudan J Paediatr
January 2024
Department of Paediatrics, South West Acute Hospital, Enniskillen, UK.
Pseudohypoaldosteronism (PHA) is a rare disorder that mimics congenital adrenal hyperplasia (CAH). Renal type A1A of the disorder has a known gene mutation (NR3C2) and parents may be asymptomatic despite biochemical abnormalities. Meticulous interpretation of hormonal and biochemical data, and early liaison with endocrinology and renal teams are key in diagnosis.
View Article and Find Full Text PDFA Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the Gene.
J Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Turkey.
Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel (ENaC) subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment.
View Article and Find Full Text PDFRenal 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.
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