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Article

A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Ekinci Zelal, Aytac Mehmet Baha, Cheong Hae Il

Abstract excerpt

Systemic pseudohypoaldosteronism type 1 (PHA1) is characterized by excessive salt loss from the renal tubulus, colon, sweat and salivary glands. Here we present a case of systemic PHA1 whose genetic analysis revealed a homozygous splicing mutation in intron 4 of SCNN1A (c.684+2 T>A) and discuss with the patient's phenotype. Previously described systemic PHA cases show varying degrees of severity dependent on the...

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Identifiers

PMID: 23813355
DOI: 10.1515/jpem-2013-0053

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