Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels

Author:

Stowasser Michael,Wolley Martin,Wu Aihua,Gordon Richard D.,Schewe Julia,Stölting Gabriel,Scholl Ute I.

Funder

Deutsche Forschungsgemeinschaft

Stiftung Charité

Commonwealth Government of Australia

Publisher

Springer Science and Business Media LLC

Subject

Internal Medicine

Reference60 articles.

1. • Sutherland DJ, Ruse JL, Laidlaw JC. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J. 1966;95(22):1109–19 This was the first description of familial PA (FH-I).

2. •• Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992;355(6357):262–5. https://doi.org/10.1038/355262a0 This was the first report of a genetic mutation causing familial PA (FH-I).

3. Lifton RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, et al. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet. 1992;2(1):66–74. https://doi.org/10.1038/ng0992-66 .

4. •• Choi M, Scholl UI, Yue P, Bjorklund P, Zhao B, Nelson-Williams C, et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science. 2011;331(6018):768–72. https://doi.org/10.1126/science.1198785 This paper was first to descibe somatic mutations in KCNJ5 within aldosterone-producing adenomas and inherited KCNJ5 mutations in genomic DNA causing familial PA (FH-III).

5. Scholl UI, Nelson-Williams C, Yue P, Grekin R, Wyatt RJ, Dillon MJ, et al. Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5. Proc Natl Acad Sci U S A. 2012;109(7):2533–8. https://doi.org/10.1073/pnas.1121407109 .

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