Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.
PMID 39295704 | PMCID PMC11408973 | DOI 10.7759/cureus.67165 · Cureus · 2024
Pseudohypoaldosteronism type 1 (PHA1) is a rare, heterogeneous group of disorders characterized by resistance to aldosterone action. We report the case of a 17-day-old Saudi female infant who presented on the third day of life with persistent hyperkalemia, hyponatremia, and metabolic acidosis. Initial evaluation for congenital adrenal hyperplasia was unremarkable. Genetic testing confirmed a novel homozygous variant (c.1522C>T p.(Arg508) chr 12:6458147 in SCNN1 A) in the SCNN1A gene, consistent with the diagnosis of PHA1B, a genetically confirmed subtype of PHA1. Prompt recognition and management of electrolyte disturbances are crucial in these neonates to prevent life-threatening complications.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SCNN1A | “Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report. We report the case of a 17-day-old Saudi female infant who presented on the third day of life with persistent hyperkalemia, hyponatremia, and metabolic acidosis.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1522C>T | “Genetic testing confirmed a novel homozygous variant (c.1522C>T p.(Arg508) chr 12:6458147 in SCNN1 A) in the SCNN1A gene, consistent with the diagnosis of PHA1B, a genetically confirmed subtype of PHA1.” | 0.95 | hgvs_regex_v1 |