The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Open accessAbstract
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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Self-citationRare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji, W., Foo, J. N., O'Roak, B. J., Zhao, H., Larson, M. G., Simon, D. B., Newton-Cheh, C., State, M. W., Levy, D., & Lifton, R. P. (2008) · Nature Genetics · doi:10.1038/ng.118 · Cited by 812
A new familial disorder characterized by hypokalemia and hypomagnesemia.
Gitelman, H. J., Graham, J. B., & Welt, L. G. (1966) · PubMed · Cited by 612
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
Bockenhauer, D., Feather, S., Stanescu, H. C., Bandulik, S., Zdebik, A. A., Reichold, M., Tobin, J., Lieberer, E., Sterner, C., Landoure, G., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810276 · Cited by 594
Self-citationMechanism of Hypokalemia in Magnesium Deficiency
Huang, C.-L., & Kuo, E. (2007) · Journal of the American Society of Nephrology · doi:10.1681/asn.2007070792 · Cited by 431
Bettinelli, A., Bianchetti, M. G., Girardin, E., Caringella, A., Cecconi, M., Appiani, A. C., Pavanello, L., Gastaldi, R., Isimbaldi, C., Lama, G., et al. (1992) · The Journal of Pediatrics · doi:10.1016/s0022-3476(05)80594-3 · Cited by 343
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
Cruz, D. N., Shaer, A. J., Bia, M. J., Lifton, R. P., & Simon, D. B. (2001) · Kidney International · doi:10.1046/j.1523-1755.2001.059002710.x · Cited by 332
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Self-citationHNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting
Adalat, S., Woolf, A. S., Johnstone, K. A., Wirsing, A., Harries, L. W., Long, D. A., Hennekam, R. C., Ledermann, S. E., Rees, L., van't Hoff, W., et al. (2009) · Journal of the American Society of Nephrology · doi:10.1681/asn.2008060633 · Cited by 277
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Cited by
Clase, C. M., Carrero, J.-J., Ellison, D. H., Grams, M. E., Hemmelgarn, B. R., Jardine, M. J., Kovesdy, C. P., Kline, G. A., Lindner, G., Obrador, G. T., et al. (2020) · Kidney International · doi:10.1016/j.kint.2019.09.018 · Cited by 498
Self-citationRegulation of the Renal NaCl Cotransporter and Its Role in Potassium Homeostasis
Hoorn, E. J., Gritter, M., Cuevas, C. A., & Fenton, R. A. (2020) · Physiological Reviews · doi:10.1152/physrev.00044.2018 · Cited by 163
Kamel, K. S., & Halperin, M. L. (2021) · Kidney International Reports · doi:10.1016/j.ekir.2021.02.003 · Cited by 49
Pathophysiologic approach in genetic hypokalemia: An update
Blanchard, A. (2023) · Annales d'Endocrinologie · doi:10.1016/j.ando.2022.11.005 · Cited by 8
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Metadata
- Authors
- Blanchard, A., Bockenhauer, D., Bolignano, D., Calò, L. A., Cosyns, E., Devuyst, O., Ellison, D. H., Karet Frankl, F. E., Knoers, N. V. A. M., Konrad, M., Lin, S.-H., & Vargas-Poussou, R.
- Venue
- Kidney International
- Publisher
- Elsevier BV
- Published
- 2017-01
- Volume
- 91
- Issue
- 1
- Pages
- 24-33
- ISSN
- 0085-2538 (ISSN-L)
- OpenAlex
- W2567617222
- Cited by
- 382
- References
- 46
- FWCI
- 9.33
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Blanchard, A., Bockenhauer, D., Bolignano, D., Calò, L. A., Cosyns, E., Devuyst, O., Ellison, D. H., Karet Frankl, F. E., Knoers, N. V. A. M., Konrad, M., Lin, S.-H., & Vargas-Poussou, R. (2017). Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International. https://doi.org/10.1016/j.kint.2016.09.046
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