Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

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• 作者：Anne Blanchard¹ ; ² ; ³ ; ⁴ ; Detlef Bockenhauer⁵ ; ⁶ ; Davide Bolignano⁷ ; Lorenzo A. Calò ; ⁸ ; Etienne Cosyns⁹ ; Olivier Devuyst¹⁰ ; ^{olivier.devuyst@uzh.ch} ; David H. Ellison¹¹ ; Fiona E. Karet Frankl¹² ; ¹³ ; Nine V.A.M. Knoers¹⁴ ; ^{v.v.a.knoers@umcutrecht.nl} ; Martin Konrad¹⁵ ; Shih-Hua Lin¹⁶ ; ¹⁷ ; Rosa Vargas-Poussou² ; ¹⁸
• 关键词：hypokalemic metabolic alkalosis ; hypomagnesemia ; salt-losing tubulopathy ; SLC12A3 ; thiazide-sensitive sodium-chloride cotransporter
• 刊名：Kidney International
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：91
• 期：1
• 页码：24-33
• 全文大小：265 K
• 卷排序：91

文摘

Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations. GS is usually managed by a liberal salt intake together with oral magnesium and potassium supplements. A general problem in rare diseases is the lack of high quality evidence to inform diagnosis, prognosis, and management. We report here on the current state of knowledge related to the diagnostic evaluation, follow-up, management, and treatment of GS; identify knowledge gaps; and propose a research agenda to substantiate a number of issues related to GS. This expert consensus statement aims to establish an initial framework to enable clinical auditing and thus improve quality control of care.