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 Ellison, Fiona E. Karet Frankl, Nine V A M Knoers, Martin Konrad, Shih Hua Lin, Rosa Vargas-Poussou

Research output: Contribution to journalArticle

43 Citations (Scopus)

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

Fingerprint

Gitelman Syndrome
Kidney Diseases
Member 3 Solute Carrier Family 12
Salts
Alkalosis
Quality of Health Care
Rare Diseases
Quality Control
Magnesium
Potassium
Quality of Life
Mutation
Research
Genes

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)
  • Nephrology

Cite this

Blanchard, A., Bockenhauer, D., Bolignano, D., Calò, L. A., Cosyns, E., Devuyst, O., ... 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

Gitelman syndrome : consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. / Blanchard, Anne; Bockenhauer, Detlef; Bolignano, Davide; Calò, Lorenzo A.; Cosyns, Etienne; Devuyst, Olivier; Ellison, David; Karet Frankl, Fiona E.; Knoers, Nine V A M; Konrad, Martin; Lin, Shih Hua; Vargas-Poussou, Rosa.

In: Kidney International, Vol. 91, No. 1, 01.01.2017, p. 24-33.

Research output: Contribution to journalArticle

Blanchard, A, Bockenhauer, D, Bolignano, D, Calò, LA, Cosyns, E, Devuyst, O, Ellison, D, Karet Frankl, FE, Knoers, NVAM, Konrad, M, Lin, SH & Vargas-Poussou, R 2017, 'Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference', Kidney International, vol. 91, no. 1, pp. 24-33. https://doi.org/10.1016/j.kint.2016.09.046
Blanchard, Anne ; Bockenhauer, Detlef ; Bolignano, Davide ; Calò, Lorenzo A. ; Cosyns, Etienne ; Devuyst, Olivier ; Ellison, David ; Karet Frankl, Fiona E. ; Knoers, Nine V A M ; Konrad, Martin ; Lin, Shih Hua ; Vargas-Poussou, Rosa. / Gitelman syndrome : consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. In: Kidney International. 2017 ; Vol. 91, No. 1. pp. 24-33.
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