Clinical, Biochemical, and Molecular Spectrum of Pseudohypoaldosteronism Type 1B in Indian Children: A Multicentric Case Series
Authors' conclusion
This first multicentric South Indian series highlights exclusive reporting of PHA1B, high early mortality, and major treatment challenges. Eight novel ENaC variants expand the genetic spectrum of PHA1B in India.
Study context
- Population
- Children diagnosed with PHA1 at six tertiary care centres in South India, 2022–2025
- Participants
- 9 children
- Outcome
- Clinical, biochemical and molecular characteristics
Methodological detailsmulticentric, six tertiary care centres, Genetic testing by clinical exome sequencing; variants classified by ACMG guidelines
- Multicentric
- Six tertiary care centres
- Genetic testing by clinical exome sequencing; variants classified by ACMG guidelines
Main finding
As reported in the abstract
- Systemic form (PHA1B)
- 9 of 9
- Age at presentation, median (IQR)
- 14 days (5.5-42.5)
- Parental consanguinity
- 7 (78%)
- Hyponatraemia and hyperkalaemia at presentation
- 9 of 9
- Serum sodium, median
- 124 mEq/L
- Serum potassium, median
- 8.0 mEq/L
- Novel homozygous ENaC variants (pathogenic/likely-pathogenic: 4, supporting: 4)
- 8
- SCNN1A / SCNN1B / SCNN1G variants
- 2 / 3 / 3
Observational data: associations, not effects.
Further findings
Treatment outcomes
- Died
- 6 (67%)
- Deaths due to sepsis
- 2
- Deaths due to treatment discontinuation
- 4
- Stable on oral sodium supplementation
- 3
Original publication
Clinical, Biochemical, and Molecular Spectrum of Pseudohypoaldosteronism Type 1B in Indian Children: A Multicentric Case Series. Clin Endocrinol (Oxf). Published 4 August 2026. doi:10.
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