Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R
Kidney international · 239 citations
Review labels
Neutral facts our review recorded about how this study was done. They describe method, never whether we like the result.
How it was studied
- Design
- Expert or government fact sheet (classified by our AI screen)
- Main outcome
- No health outcome
Who paid for it
- Funding
- Funding not disclosed
Publication
- Published
- 2016-12-18 · Kidney Int · vol. 91 · issue 1 · pp. 24–33
- Publisher
- Elsevier BV
- Cited
- 384 citations · more than 99% of similar papers · 9.5× the field average
- Impact
- Top 10% most cited in its field
- References
- 92 works
- Access
- Open access (hybrid journal) · CC-BY-NC-SA
- Research areas
- Ion Transport and Channel Regulation · Potassium and Related Disorders · Magnesium in Health and Disease
- Keywords
- Hypocalciuria, Medicine, Tubulopathy, Intensive care medicine, Nephrology, Gitelman syndrome, Disease, Kidney disease, Internal medicine, Pediatrics, Hypomagnesemia
- MeSH
- humans, chondrocalcinosis, bartter syndrome, hypokalemia, rare diseases, potassium, calcium, magnesium, sodium chloride, dietary, chloride channels, anti-inflammatory agents, non-steroidal, angiotensin-converting enzyme inhibitors, diagnosis, differential, ultrasonography, phenotype, mutation, quality of life, dietary supplements, gitelman syndrome, practice guidelines as topic, genetic testing, angiotensin receptor antagonists, solute carrier family 12, member 3, consensus statements as topic
12 authors
From FR, GB, IT, CH, US, NL, DE, TW
- Anne BlanchardDélégation Paris 5; Inserm; Université Paris Cité; Sorbonne Paris Cité; Assistance Publique – Hôpitaux de Paris; Hôpital Européen Georges-Pompidou; Hôpital Européen
- Detlef BöckenhauerNational Health Service; Great Ormond Street Hospital for Children NHS Foundation Trust; University College London
- Davide BolignanoIstituto di Fisiologia Clinica; National Research Council
- Lorenzo Arcangelo CalòUniversity of Padua
- Etienne Cosyns
- Olivier Devuyst · correspondingUniversity of Zurich
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.
Abstract via Europe PMC. Copyright remains with the authors or publisher (CC BY-NC-SA).
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