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 citas
Etiquetas de revisión
Financiación no declaradaDatos neutrales que nuestra revisión registró sobre cómo se hizo este estudio. Describen el método, nunca si nos gusta el resultado.
Cómo se estudió
- Diseño
- Ficha de expertos o del gobierno (clasificado por nuestro filtro de IA)
- Resultado principal
- Sin resultado de salud
Quién lo pagó
- Financiación
- Financiación no declarada
Publicación
- Publicado
- 2016-12-18 · Kidney Int · vol. 91 · número 1 · págs. 24–33
- Editorial
- Elsevier BV
- Citado
- 384 citas · más que el 99% de estudios similares · 9.5× el promedio de su campo
- Impacto
- Entre el 10 % más citado de su campo
- Referencias
- 92 trabajos
- Acceso
- Acceso abierto (revista híbrida) · CC-BY-NC-SA
- Áreas de investigación
- Ion Transport and Channel Regulation · Potassium and Related Disorders · Magnesium in Health and Disease
- Palabras clave
- 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 autores
- Anne Blanchard🇫🇷Délégation Paris 5; Inserm; Université Paris Cité; Sorbonne Paris Cité; Assistance Publique – Hôpitaux de Paris; Hôpital Européen Georges-Pompidou; Hôpital Européen
- Detlef Böckenhauer🇬🇧National Health Service; Great Ormond Street Hospital for Children NHS Foundation Trust; University College London
- Davide Bolignano🇮🇹Istituto di Fisiologia Clinica; National Research Council
- Lorenzo Arcangelo Calò🇮🇹University of Padua
- Etienne Cosyns
- Olivier Devuyst🇨🇭 · autor de correspondenciaUniversity of Zurich
- David H. Ellison🇺🇸Oregon Health & Science University; VA Portland Health Care System
- Fiona E. Karet🇬🇧National Health Service; University of Cambridge; Cambridge University Hospitals NHS Foundation Trust
- Nine V.A.M. Knoers🇳🇱 · autor de correspondenciaUtrecht University; University Medical Center Utrecht; Amsterdam UMC Location Vrije Universiteit Amsterdam
- Martin Konrad🇩🇪University Hospital Münster
- Shih-Hua Lin🇹🇼Tri-Service General Hospital; National Defense Medical Center
- Rosa Vargas‐Poussou🇫🇷Assistance Publique – Hôpitaux de Paris; Hôpital Européen Georges-Pompidou; Hôpital Européen
Resumen
El texto original del estudio, en el idioma en que se publicó.
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.
Resumen vía Europe PMC. Los derechos de autor siguen siendo de los autores o la editorial (CC BY-NC-SA).
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