Pseudohypoaldosteronism type 1 autosomal dominant
Type of disease: Genetic, autosomal dominant | Rare conditions
Autosomal dominant pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine, failure to thrive and dehydration. Patients typically present in the newborn period, improve with age, and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. Autosomal dominant pseudohypoaldosteronism type 1 (PHA1A) exhibits autosomal dominant inheritance with variable expression. It is caused by by mutations in the mineralocorticoid receptor gene (NR3C2). Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.