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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.
Adachi M, Muroya K, Asakura Y, Sugiyama K, Homma K, Hasegawa T. Adachi M, et al. Horm Res Paediatr. 2014;82(2):138-42. doi: 10.1159/000358197. Epub 2014 May 10. Horm Res Paediatr. 2014. PMID: 24819081 Review.
BACKGROUND: Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five missense mutations in KCNJ5 have been identified. ...Thereafter, spironolactone treatment successfully ameliorated hyperaldosteronism for 7 ye …
BACKGROUND: Familial hyperaldosteronism type III (FH-III) is a rare autosomal dominant disease for which five mi …
Cushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole.
Tatsi C, Maria AG, Malloy C, Lin L, London E, Settas N, Flippo C, Keil M, Hannah-Shmouni F, Hoffman DA, Stratakis CA. Tatsi C, et al. J Clin Endocrinol Metab. 2021 May 13;106(6):1606-1616. doi: 10.1210/clinem/dgab118. J Clin Endocrinol Metab. 2021. PMID: 33630995 Free PMC article.
CONTEXT: Pathogenic variants in KCNJ5, encoding the GIRK4 (Kir3.4) potassium channel, have been implicated in the pathogenesis of familial hyperaldosteronism type-III (FH-III) and sporadic primary aldosteronism (PA). ...
CONTEXT: Pathogenic variants in KCNJ5, encoding the GIRK4 (Kir3.4) potassium channel, have been implicated in the pathogenesis of familia …