1. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
- Author
-
Martin Konrad, David H. Ellison, Shih-Hua Lin, Rosa Vargas-Poussou, Anne Blanchard, Olivier Devuyst, Detlef Bockenhauer, Davide Bolignano, Lorenzo A. Calò, Nine V A M Knoers, Fiona E. Karet Frankl, Etienne Cosyns, University of Zurich, Devuyst, Olivier, Blanchard, Anne [0000-0002-0815-0586], Bolignano, Davide [0000-0003-3032-245X], Ellison, David H [0000-0003-2915-265X], Apollo - University of Cambridge Repository, CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), University College of London [London] (UCL), Great Ormond Street Hospital for Children [London] (GOSH), Consiglio Nazionale delle Ricerche / National Research Council [Calabria, Italy] (CNR), Universita degli Studi di Padova, Wanze [Belgium], Universität Zürich [Zürich] = University of Zurich (UZH), Oregon Health and Science University [Portland] (OHSU), University of Cambridge [UK] (CAM), Cambridge University Hospitals - NHS (CUH), University Medical Center [Utrecht], University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), National Taiwan University [Taiwan] (NTU), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Università degli Studi di Padova = University of Padua (Unipd), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA), and HULOT, Jean-Sébastien
- Subjects
Calcium/urine ,Sodium Chloride, Dietary/therapeutic use ,Consensus Development Conferences as Topic ,030232 urology & nephrology ,Anti-Inflammatory Agents ,Angiotensin-Converting Enzyme Inhibitors ,Disease ,030204 cardiovascular system & hematology ,Sodium Chloride ,thiazide-sensitive sodium-chloride cotransporter ,[SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology ,10052 Institute of Physiology ,0302 clinical medicine ,Gitelman Syndrome/complications ,Diagnosis ,salt-losing tubulopathy ,Medicine ,Potassium/administration & dosage ,Magnesium ,Solute Carrier Family 12, Member 3 ,Ultrasonography ,2727 Nephrology ,Magnesium/administration & dosage ,medicine.diagnostic_test ,Anti-Inflammatory Agents, Non-Steroidal ,Dietary/therapeutic use ,Bartter Syndrome/blood ,Angiotensin Receptor Antagonists/therapeutic use ,3. Good health ,Angiotensin-Converting Enzyme Inhibitors/therapeutic use ,Chondrocalcinosis/etiology ,Phenotype ,Nephrology ,Practice Guidelines as Topic ,Anti-Inflammatory Agents, Non-Steroidal/therapeutic use ,medicine.symptom ,Gitelman Syndrome ,medicine.medical_specialty ,Non-Steroidal/therapeutic use ,Solute Carrier Family 12 ,Chloride Channels/genetics ,610 Medicine & health ,Chondrocalcinosis ,Hypokalemia ,Hypocalciuria ,Diagnosis, Differential ,03 medical and health sciences ,hypomagnesemia ,Angiotensin Receptor Antagonists ,Rare Diseases/genetics ,Rare Diseases ,Tubulopathy ,Chloride Channels ,Journal Article ,Humans ,Genetic Testing ,Salt intake ,Sodium Chloride, Dietary ,Intensive care medicine ,Genetic testing ,business.industry ,Bartter Syndrome ,Gitelman syndrome ,medicine.disease ,[SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology ,hypokalemic metabolic alkalosis ,Differential ,Member 3/genetics ,Dietary Supplements ,Mutation ,Hypokalemia/blood ,Potassium ,Quality of Life ,570 Life sciences ,biology ,Calcium ,SLC12A3 ,Differential diagnosis ,Solute Carrier Family 12, Member 3/genetics ,business ,Kidney disease - Abstract
International audience; 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.
- Published
- 2017
- Full Text
- View/download PDF