Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
| Autor: | 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 |
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| Přispěvatelé: | 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), HULOT, Jean-Sébastien |
| Rok vydání: | 2017 |
| Předmět: |
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 |
| Zdroj: | Kidney International, 91(1), 24-33. ELSEVIER SCIENCE INC Kidney International, 91(1), 24. Nature Publishing Group Kidney International Kidney International, Nature Publishing Group, 2017, 91 (1), pp.24-33. ⟨10.1016/j.kint.2016.09.046⟩ Kidney International, 2017, 91 (1), pp.24-33. ⟨10.1016/j.kint.2016.09.046⟩ |
| ISSN: | 0085-2538 1523-1755 |
| DOI: | 10.1016/j.kint.2016.09.046 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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