Clinical, Biochemical, and Molecular Spectrum of Pseudohypoaldosteronism Type 1B in Indian Children: A Multicentric Case Series.

All nine patients had the systemic form (PHA1B).

The median age at presentation was 14 days (interquartile range 5.5-42.5), and parental consanguinity was present in seven (78%).

All presented with hyponatraemia and hyperkalaemia (median serum sodium 124 mEq/L; potassium 8.0 mEq/L).

Eight (pathogenic/likely-pathogenic: 4, supporting: 4) homozygous variants were identified in SCNN1A (n = 2), SCNN1B (n = 3), and SCNN1G (n = 3); all were novel.