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 cotransport...

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Veröffentlicht in:	Kidney international 2017-01, Vol.91 (1), p.24-33
Hauptverfasser:	Blanchard, Anne, Bockenhauer, Detlef, Bolignano, Davide, Calò, Lorenzo A., Cosyns, Etienne, Devuyst, Olivier, Ellison, David H., Karet Frankl, Fiona E., Knoers, Nine V.A.M., Konrad, Martin, Lin, Shih-Hua, Vargas-Poussou, Rosa
Format:	Artikel
Sprache:	eng
Schlagworte:	Angiotensin Receptor Antagonists - therapeutic use Angiotensin-Converting Enzyme Inhibitors - therapeutic use Anti-Inflammatory Agents, Non-Steroidal - therapeutic use Bartter Syndrome - blood Bartter Syndrome - diagnosis Bartter Syndrome - genetics Bartter Syndrome - urine Calcium - urine Chloride Channels - genetics Chondrocalcinosis - etiology Chondrocalcinosis - prevention & control Consensus Development Conferences as Topic Diagnosis, Differential Dietary Supplements Genetic Testing Gitelman Syndrome - complications Gitelman Syndrome - diagnosis Gitelman Syndrome - drug therapy Gitelman Syndrome - genetics Human health and pathology Humans Hypokalemia - blood Hypokalemia - genetics hypokalemic metabolic alkalosis hypomagnesemia Life Sciences Magnesium - administration & dosage Magnesium - blood Magnesium - therapeutic use Mutation Phenotype Potassium - administration & dosage Potassium - blood Potassium - therapeutic use Practice Guidelines as Topic Quality of Life Rare Diseases - genetics salt-losing tubulopathy SLC12A3 Sodium Chloride, Dietary - therapeutic use Solute Carrier Family 12, Member 3 - genetics thiazide-sensitive sodium-chloride cotransporter Ultrasonography Urology and Nephrology
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