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Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1

14 Jul 2019

Abstract excerpt

Background Type I pseudohypoaldosteronism (PHA1) is a rare condition characterised by profound salt wasting, hyperkalaemia and metabolic acidosis due to renal tubular resistance to aldosterone (PHA1a) or defective sodium epithelial channels (PHA1b or systemic PHA). Our aim was to review the clinical presentation related to the genotype in patients with PHA1. Methods A questionnaire-based cross-sectional survey...

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Electrolyte and hormonal disorders
Ion channel regulation and function
Ion Transport and Channel Regulation

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PMID: 31301676
DOI: 10.1515/jpem-2018-0538

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