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Case Report

Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report

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Pages 149-155 | Published online: 22 Jan 2018

References

  • GitelmanHJGrahamJBWeltLGA new familial disorder characterized by hypokalemia and hypomagnesemiaTrans Assoc Am Physicians1966792212355929460
  • BettinelliABianchettiMGGirardinEUse of calcium excretion value to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromesJ Pediatr1992120138431731022
  • HoffmannGFZschockeJNyhanWLInherited Metabolic Diseases A Clinical Approach2nd edNew YorkSpringer2017
  • MelanderOOrho-MelanderMBengtssonKGenetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman’s syndrome and primary hypertensionHypertension200036338939410988270
  • CruzDNShaerAJBiaMJLiftonRPSimonDBYale Gitelman’s and Bartter’s Syndrome Collaborative Study GroupGitelman’s syndrome revisited: an evaluation of symptoms and health-related quality of lifeKidney Int200159271071711168953
  • ChengNLKaoMCHsuYDLinSHNovel thiazide-sensitive Na–Cl cotransporter mutation in a Chinese patient with Gitelman’s syndrome presenting as hypokalaemic paralysisNephrol Dial Transplant20031851005100812686679
  • de La FailleRValletMVenisseAA pseudo-dominant form of Gitelman’s syndromeNDT Plus20114638638925984200
  • SteinerAZChangLJiQOokhtensMStolzAPaulsonRJStanczykFZ3alpha-hydroxysteroid dehydrogenase type III deficiency: a novel mechanism for hirsutismJ Clin Endocrinol Metab20089341298130318252781
  • LinSHLinYFHalperinMLHypokalemia and paralysisQJM200194313313911259688
  • PetersMJeckNReinalterSSClinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathiesAm J Med2002112318319011893344
  • LeeJWLeeJHeoNJCheongHIHanJSMutations in SLC12A3 and CLCNKB and their correlation with clinical phenotype in patients with Gitelman and Gitelman-like syndromeJ Korean Med Sci2016311475426770037
  • ColemanWBTsongalisGJEssential Concepts In Molecular PathologyBurlingtonElsevier2010
  • SeyberthHWSchlingmannKPBartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defectsPediatr Nephrol201126101789180221503667
  • KumarPClarkMClinical Medicine7th edPhiladelphiaSaunders Elsevier2009
  • LiftonRPSomloSGiebischGHGenetic Diseases of the KidneyBurlingtonElsevier2009
  • Ashton ActonQGitelman syndrome: New insights for the healthcare professionalEdition: Scholarly Paper2012121–17
  • GrazianiGFedeliCMoroniLCosmaiLBadalamentiSPonticelliCGitelman syndrome: pathophysiological and clinical aspectsQJM20101031074174820650971
  • SimonDBNelson-WilliamsCBiaMJGitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporterNat Genet199612124308528245
  • ChangHTashiroKHiraiMIkedaKKurokawaKFujitaTIdentification of a cDNA encoding a thiazide-sensitive sodium–chloride cotransporter from the human and its mRNA expression in various tissuesBiochem Biophys Res Commun199622323243288670281
  • TsengMHYangSSHsuYJGenotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutationJ Clin Endocrinol Metab2012978E1478E148222679066
  • MakiNKomatsudaAWakuiHFour novel mutations in the thiazide-sensitive Na–Cl co-transporter gene in Japanese patients with Gitelman’s syndromeNephrol Dial Transplant20041971761176615069170
  • Vargas-PoussouRDahanKKahilaDSpectrum of mutations in Gitelman syndromeJ Am Soc Nephrol201122469370321415153
  • LuoJYangXLiangJLiWA pedigree analysis of two homozygous mutant Gitelman syndrome casesEndocr J2015621293625273610
  • KnoersNVLevtchenkoENGitelman syndromeOrphanet J Rare Dis200830322