Clinical, Biochemical, and Molecular Spectrum of Pseudohypoaldosteronism Type 1B in Indian Children: A Multicentric Case Series.
BACKGROUND Pseudohypoaldosteronism type 1 (PHA1) is a rare hereditary disorder characterised by aldosterone resistance leading to salt wasting, hyperkalaemia, and metabolic acidosis. Two forms are recognised: a milder renal form (PHA1A) due to NR3C2 mutations and a severe systemic form (PHA1B) caused by biallelic mutat...