Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Berlin Institute of Health (BIH), Berlin, Germany.
Eur J Endocrinol. 2019 Nov 1;181(5):C21-C22. doi: 10.1530/EJE-19-0688.
Germline mutations in the chloride channel gene CLCN2 have been described as cause of familial hyperaldosteronism type II. In this issue, Dutta and colleagues in a groundbreaking study identify a somatic (tumor-specific) CLCN2 mutation in an aldosterone-producing adenoma, expanding the disease spectrum associated with CLCN2 mutations.
氯离子通道基因 CLCN2 的种系突变已被描述为家族性醛固酮增多症 II 型的病因。在本期中，Dutta 及其同事在一项开创性研究中鉴定出一个产生醛固酮的腺瘤中的体细胞（肿瘤特异性）CLCN2 突变，扩大了与 CLCN2 突变相关的疾病谱。
