December 28, 2011Hypertension

KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

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Population

46 patients from 21 European families with familial hyperaldosteronism (FH) in which FH-I was excluded

Design

Other

Authors

PMPaolo MulateroPreventive Cardiology PTPhilipp TauberUniversity of Regensburg MZMaria‐Christina ZennaroInserm

Discussion

Member takes

Implication

Expands KCNJ5 spectrum in familial hyperaldosteronism type III; leaves open genotype-phenotype correlations for future validation.

Structured PICO

Population

46 patients from 21 European families with familial hyperaldosteronism (FH) in which FH-I was excluded

Intervention

Genetic screening for KCNJ5 mutations and in vitro functional characterization

Outcome

Presence of KCNJ5 mutations and their functional effects on channel functionsurrogate

Identifies a novel KCNJ5 mutation (G151E) associated with familial hyperaldosteronism type III that causes marked channel dysfunction but a mild clinical phenotype.

Cite This Study

Mulatero et al. (2011) studied this question.

synapsesocial.com/papers/6a850d5751af2ae1db8aa7ca https://doi.org/10.1161/hypertensionaha.111.183996

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KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

Discussion

Member takes

Implication

Structured PICO

Cite This Study

KCNJ5 Mutations in European Families With Nonglucocorticoid Remediable Familial Hyperaldosteronism

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider