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Bartter Syndrome and Gitelman Syndrome.
Fulchiero R, Seo-Mayer P. Fulchiero R, et al. Pediatr Clin North Am. 2019 Feb;66(1):121-134. doi: 10.1016/j.pcl.2018.08.010. Pediatr Clin North Am. 2019. PMID: 30454738 Review.
Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. ...Bartter variants may be associated with polyuria and weakness. Gitelman syndro …
Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal …
Bartter's and Gitelman's syndrome.
Seyberth HW, Weber S, Kömhoff M. Seyberth HW, et al. Curr Opin Pediatr. 2017 Apr;29(2):179-186. doi: 10.1097/MOP.0000000000000447. Curr Opin Pediatr. 2017. PMID: 27906863 Review.
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. ...Thus, when dealing with Bartter's syndrome and Gitelman's syndrome, the corre …
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recen …
Bartter and Gitelman syndromes.
Zieg J, Doležel Z. Zieg J, et al. Cas Lek Cesk. 2022 Summer;161(3-4):131-134. Cas Lek Cesk. 2022. PMID: 36100451 Review. English.
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte disorders. ...
Bartter and Gitelman syndromes belong to salt-losing tubulopathies. These rare diseases may be associated with severe electrolyte dis …
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. Blanchard A, et al. Kidney Int. 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046. Kidney Int. 2017. PMID: 28003083 Free article.
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. ...
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hy …
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.
Palazzo V, Raglianti V, Landini S, Cirillo L, Errichiello C, Buti E, Artuso R, Tiberi L, Vergani D, Dirupo E, Romagnani P, Mazzinghi B, Becherucci F. Palazzo V, et al. Int J Mol Sci. 2022 May 18;23(10):5641. doi: 10.3390/ijms23105641. Int J Mol Sci. 2022. PMID: 35628451 Free PMC article.
Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. ...
Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, …
The genetic spectrum of Gitelman(-like) syndromes.
Schlingmann KP, de Baaij JHF. Schlingmann KP, et al. Curr Opin Nephrol Hypertens. 2022 Sep 1;31(5):508-515. doi: 10.1097/MNH.0000000000000818. Epub 2022 Jul 11. Curr Opin Nephrol Hypertens. 2022. PMID: 35894287 Free PMC article. Review.
In Gitelman syndrome, loss-of-function mutations in SLC12A3 cause impaired NCC-mediated Na+ reabsorption. ...SUMMARY: Altogether, these findings extend the genetic spectrum of Gitelman-like electrolyte alterations. Genetic testing of patients with hypomagnesemia and …
In Gitelman syndrome, loss-of-function mutations in SLC12A3 cause impaired NCC-mediated Na+ reabsorption. ...SUMMARY: Altogether, the …
Gitelman syndrome: diagnostic challenges and therapeutic strategies.
Wang Y, Wang H, Li Y, Xin S, Liu X, Shi W, Wang B, Yin H, Han Y, Bian Z, Xu C, Xu J. Wang Y, et al. Clin Chim Acta. 2025 Aug 15;576:120432. doi: 10.1016/j.cca.2025.120432. Epub 2025 Jun 15. Clin Chim Acta. 2025. PMID: 40527371 Review.
Gitelman syndrome (GS), characterized as an autosomal recessive tubulopathy due to SLC12A3 mutations, disrupts the sodium-chloride cotransporter (NCC) within the renal distal convoluted tubule. ...
Gitelman syndrome (GS), characterized as an autosomal recessive tubulopathy due to SLC12A3 mutations, disrupts the sodium-chloride co …
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R. Hureaux M, et al. Kidney Int. 2019 Dec;96(6):1408-1416. doi: 10.1016/j.kint.2019.08.027. Epub 2019 Sep 16. Kidney Int. 2019. PMID: 31672324 Free article.
Three-quarters of our tubulopathies cohort included individuals with clinical suspicion of Gitelman syndrome, kidney hypophosphatemia and kidney tubular acidosis. We detected pathogenic variants in 26 different genes confirming a genetic diagnosis of tubulopathy in 29% of …
Three-quarters of our tubulopathies cohort included individuals with clinical suspicion of Gitelman syndrome, kidney hypophosphatemia …
Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.
Zeng Y, Li P, Fang S, Wu C, Zhang Y, Lin X, Guan M. Zeng Y, et al. Med Sci Monit. 2019 Aug 9;25:5942-5952. doi: 10.12659/MSM.916069. Med Sci Monit. 2019. PMID: 31398183 Free PMC article.
BACKGROUND The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diagnostic accuracy and features of SLC12A3 gene in Chinese patients with GS. ...
BACKGROUND The incidence of Gitelman syndrome (GS) has been increasing in our hospital. The aim of this study was to explore the diag …
Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction.
Zhang L, Peng X, Zhao B, Xia P, Wen Y, Ye W, Li X, Li X, Ye W, Cheng H, Chen L. Zhang L, et al. Nephron. 2023;147(9):531-540. doi: 10.1159/000529775. Epub 2023 Feb 20. Nephron. 2023. PMID: 36806220 Free PMC article.
INTRODUCTION: Gitelman syndrome (GS) is a rare renal tubular salt-wasting disorder. Besides kidney electrolyte loss, proteinuria and renal dysfunction were also observed. ...
INTRODUCTION: Gitelman syndrome (GS) is a rare renal tubular salt-wasting disorder. Besides kidney electrolyte loss, proteinuria and …
207 results