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ALLMedicine™ Autosomal Recessive Pseudohypoaldosteronism Type 1 Center

Research & Reviews  3 results

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldostero...
European Journal of Endocrinology; Welzel M, Akin L et. al.

Feb 18th, 2013 - Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC). While auto...

Autosomal recessive pseudohypoaldosteronism type 1

Dec 1st, 2011 - Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ system...

Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1.
Current Opinion in Pediatrics; Schweiger B, Moriarty MW et. al.

Aug 6th, 2009 - Hyponatremia and hyperkalemia in infancy can represent a variety of renal and genetic disorders with significant long-term health implications. We report a newborn with severe hyperkalemia and hyponatremia from autosomal recessive pseudohypoaldost...

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