Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
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.
['Blanchard|Anne|A|', 'Bockenhauer|Detlef|D|', 'Bolignano|Davide|D|', 'Calò|Lorenzo A|LA|', 'Cosyns|Etienne|E|', 'Devuyst|Olivier|O|', 'Ellison|David H|DH|', 'Karet Frankl|Fiona E|FE|', 'Knoers|Nine V A M|NV|', 'Konrad|Martin|M|', 'Lin|Shih-Hua|SH|', 'Vargas-Poussou|Rosa|R|']
D057911:Angiotensin Receptor Antagonists D000806:Angiotensin-Converting Enzyme Inhibitors D000894:Anti-Inflammatory Agents, Non-Steroidal D001477:Bartter Syndrome D002118:Calcium D018118:Chloride Channels D002805:Chondrocalcinosis D003245:Consensus Development Conferences as Topic D003937:Diagnosis, Differential D019587:Dietary Supplements D005820:Genetic Testing D053579:Gitelman Syndrome D006801:Humans D007008:Hypokalemia D008274:Magnesium D009154:Mutation D010641:Phenotype D011188:Potassium D017410:Practice Guidelines as Topic D011788:Quality of Life D035583:Rare Diseases D017673:Sodium Chloride, Dietary D064486:Solute Carrier Family 12, Member 3 D014463:Ultrasonography
salt-losing tubulopathy hypokalemic metabolic alkalosis hypomagnesemia SLC12A3 thiazide-sensitive sodium-chloride cotransporter