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Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

  • Blanchard A Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Centre d'Investigation Clinique, Paris, France; Centre d'Investigation Clinique 1418, Institut National de la Santé et de la Recherche Médicale, Paris, France; UMR 970, Institut National de la Santé et de la Recherche Médicale, Paris, France.
  • Bockenhauer D Centre for Nephrology, University College London, London, UK; Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK.
  • Bolignano D Institute of Clinical Physiology, National Research Council, Reggio, Calabria, Italy.
  • Calò LA Department of Medicine, Nephrology, University of Padova, Padova, Italy.
  • Cosyns E Wanze, Belgium.
  • Devuyst O Institute of Physiology, University of Zurich, Zurich, Switzerland. Electronic address: olivier.devuyst@uzh.ch.
  • Ellison DH Division of Nephrology and Hypertension, Oregon Health and Science University, Veterans Affairs Portland Health Care System, Portland, Oregon, USA.
  • Karet Frankl FE Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals National Health Service Trust, Cambridge, UK; Division of Renal Medicine, University of Cambridge and Cambridge University Hospitals National Health Service Trust, Cambridge, UK.
  • Knoers NV Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: v.v.a.knoers@umcutrecht.nl.
  • Konrad M Department of General Pediatrics, University Children's Hospital, Münster, Germany.
  • Lin SH Division of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan; Graduate Institute of Medical Science, National Defense Medical Center, Taipei, Taiwan.
  • Vargas-Poussou R Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Centre d'Investigation Clinique, Paris, France; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France.
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  • 2016-12-23
Published in:
  • Kidney international. - 2017
SLC12A3
hypokalemic metabolic alkalosis
hypomagnesemia
salt-losing tubulopathy
thiazide-sensitive sodium-chloride cotransporter
Angiotensin Receptor Antagonists
Angiotensin-Converting Enzyme Inhibitors
Anti-Inflammatory Agents, Non-Steroidal
Bartter Syndrome
Calcium
Chloride Channels
Chondrocalcinosis
Consensus Development Conferences as Topic
Diagnosis, Differential
Dietary Supplements
Genetic Testing
Gitelman Syndrome
Humans
Hypokalemia
Magnesium
Mutation
Phenotype
Potassium
Practice Guidelines as Topic
Quality of Life
Rare Diseases
Sodium Chloride, Dietary
Solute Carrier Family 12, Member 3
Ultrasonography
English 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.
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  • English
Open access status
hybrid
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Persistent URL
https://sonar.ch/global/documents/47787
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