Mechanism of the Year

ey0015.8-1 | Mechanism of the Year | ESPEYB15

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

UI Scholl , G Stölting , J Schewe , A Thiel , H Tan , C Nelson-Williams , AA Vichot , SC Jin , E Loring , V Untiet , T Yoo , J Choi , S Xu , A Wu , M Kirchner , P Mertins , LC Rump , AM Onder , C Gamble , D McKenney , RW Lash , DP Jones , G Chune , P Gagliardi , M Choi , R Gordon , M Stowasser , C Fahlke , RP Lifton

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...

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ey0015.8-2 | Mechanism of the Year | ESPEYB15

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

FL Fernandes-Rosa , G Daniil , IJ Orozco , C Göppner , R El Zein , V Jain , S Boulkroun , X Jeunemaitre , L Amar , H Lefebvre , T Schwarzmayr , TM Strom , TJ Jentsch , MC Zennaro

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2018

8 Adrenals

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

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