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

Anne Blanchard, Detlef Bockenhauer, Davide Bolignano, Lorenzo A. Calò, Etienne Cosyns, Olivier Devuyst, David H. Ellison, Fiona E. Karet Frankl, Nine V.A.M. Knoers, Martin Konrad, Shih Hua Lin, Rosa Vargas-Poussou

Research output: Contribution to journalArticle

65 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)24-33
Number of pages10
JournalKidney International
Volume91
Issue number1
DOIs
StatePublished - Jan 1 2017

Keywords

  • SLC12A3
  • hypokalemic metabolic alkalosis
  • hypomagnesemia
  • salt-losing tubulopathy
  • thiazide-sensitive sodium-chloride cotransporter

ASJC Scopus subject areas

  • Nephrology

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    Blanchard, A., Bockenhauer, D., Bolignano, D., Calò, L. A., Cosyns, E., Devuyst, O., Ellison, D. H., Karet Frankl, F. E., Knoers, N. V. A. M., Konrad, M., Lin, S. H., & Vargas-Poussou, R. (2017). Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 91(1), 24-33. https://doi.org/10.1016/j.kint.2016.09.046