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Article

Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.

Annals of clinical and laboratory science - 1 Jan 2017

Nam Hyo-Kyoung, Nam Myung-Hyun, Kim Hye Ryun, Rhie Young-Jun, Yoo Kee Hwan, Lee Kee-Hyoung

Abstract excerpt

Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Mutations in...

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PMID: 28249922

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