89
Views
0
CrossRef citations to date
0
Altmetric
Original Research

Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient

, , ORCID Icon, , &
Pages 1999-2002 | Published online: 24 May 2021

References

  • Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys. 1966;79:221–235.
  • Knoers NV, Levtchenko EN. Gitelman Syndrome. Orphanet J Rare Dis. 2008;3:22. doi:10.1186/1750-1172-3-22
  • Mastroianni N, Bettinelli A, Bianchetti M, et al. Novel molecular variants of the Na-cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996;59(5):1019–1026.
  • Glaudemans B, Yntema HG, San-Cristobal P, et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet. 2012;20:263–270. doi:10.1038/ejhg.2011.189
  • Ma J, Ren H, Lin L, et al. Genetic features of Chinese patients with Gitelman syndrome: sixteen novel SLC12A3 mutations identified in a new cohort. Am J Nephrol. 2016;44:113–121. doi:10.1159/000447366
  • Gug C, Mihaescu A, Mozos I. Two mutations in the thiazide sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report. Ther Clin Risk Manag. 2018;14:149–155. doi:10.2147/TCRM.S150483
  • Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011;22:693–703. doi:10.1681/ASN.2010090907
  • Reissinger A, Ludwig M, Utsch B, et al. Novel NCCT gene mutations as a cause of Gitelman’s syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res. 2002;25(6):354–362. doi:10.1159/000068695
  • Lu Q, Zhang Y, Song C, et al. A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review. J Endocrinol Investig. 2016;39(3):333–340. doi:10.1007/s40618-015-0371-y
  • Munoz EV, Chang Q, Bindels RJ, et al. Gitelman syndrome: towards genotypephenotype correlations. Pediatr Nephrol. 2007;22(3):326–332. doi:10.1007/s00467-006-0321-1
  • Fedeli GGC, Cosmai ML, Badalamenti S, et al. Gitelman syndrome: pathophysiological and clinical aspects. Q J Med. 2010;103(10):741–748. doi:10.1093/qjmed/hcq123
  • Matsunoshita N, Nozu K, Shono A, et al. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. Genet Med. 2016;18(2):180–188. doi:10.1038/gim.2015.56
  • Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO)controversies conference. Kidney Int. 2017;91:24–33. doi:10.1016/j.kint.2016.09.046
  • Güvercin B, Kaynar K, Güler Ö, et al. In the presence of hypokalemia and hypomagnesemia; remember Gitelman syndrome. Hippokratia. 2019;23.
  • Reilly RF, Huang CL. The mechanism of hypocalciuria with NaCl cotransporter inhibition. Nat Rev Nephrol. 2011;7:669–674. doi:10.1038/nrneph.2011.138
  • Shahzad MA, Mukhtar M, Ahmed A, et al. Gitelman Syndrome: a rare cause of seizure disorder and a systematic review. Case Rep Med. 2019;2019:4204907. doi:10.1155/2019/4204907
  • Tseng MH, Yang SS, Hsu YJ, et al. Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation. J Clin Endocrinol Metab. 2012;97(8):E1478–1482. doi:10.1210/jc.2012-1707
  • Hsu YJ, Yang SS, Cheng CJ, et al. Thiazide-sensitive Na+−cl− Cotransporter (NCC) gene inactivation results in increased duodenal Ca2+ absorption,enhanced osteoblast differentiation and elevated bone mineral density. J Bone Miner Res. 2015;30(1):116–127. doi:10.1002/jbmr.2306
  • Simon DB, Karet FE, Hamdan JM, et al. Bartter’s syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996;13(2):183–188. doi:10.1038/ng0696-183
  • Shaer AJ. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci. 2001;322(6):316–332. doi:10.1097/00000441-200112000-00004