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Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature

1 Jan 2014

Abstract excerpt

BACKGROUND: Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five missense mutations in KCNJ5 have been identified. FH-III has a wide phenotypic variability from spironolactone-responsive hyperaldosteronism to massive adrenal hypertrophy with drug-resistant hypertension. This variation has mainly been attributed to genotype, because, in contrast to other genotypes...

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Hormonal Regulation and Hypertension
Ion Transport and Channel Regulation
Renin-Angiotensin System Studies

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24819081
DOI: 10.1159/000358197

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