Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia

References

• Bartter FC, Pronove P, Gill JR Jr., Maccardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med. 1962;33:811–28.
   PubMed Web of Science ®Google Scholar
• Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet. 1997;17:171–78.
   PubMed Web of Science ®Google Scholar
• Schurman SJ, Perlman SA, Sutphen R, Campos A, Garin EH, Cruz DN, Shoemaker LR. Genotype/phenotype observations in African Americans with Bartter syndrome. J Pediatr. 2001;139:105–10.
   PubMed Web of Science ®Google Scholar
• Lee BH, Cho HY, Lee H, Han KH, Kang HG, Ha IS, Lee JH, Park YS, Shin JI, Lee DY, et al. Genetic basis of Bartter syndrome in Korea. Nephrol, Dial, Transplant:Official Publication of the European Dialysis and Transplant Association - European Renal Association. 2012;27:1516–21.
   PubMed Web of Science ®Google Scholar
• Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, et al. Polyhydramnios, transient antenatal Bartter’s syndrome, and MAGED2 mutations. N Engl J Med. 2016;374:1853–63.
   PubMed Web of Science ®Google Scholar
• Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr. 1992;120:38–43.
   PubMed Web of Science ®Google Scholar
• Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221–35.
   PubMedGoogle Scholar
• Hsu YJ, Yang SS, Chu NF, Sytwu HK, Cheng CJ, Lin SH. Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. Nephrol, Dial, Transplant:Official Publication of the European Dialysis and Transplant Association - European Renal Association. 2009;24:1170–75.
   PubMed Web of Science ®Google Scholar
• Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22.
   PubMed Web of Science ®Google Scholar
• Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, et al. Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet. 1996;12:24–30.
   PubMed Web of Science ®Google Scholar
• Takeuchi Y, Mishima E, Shima H, Akiyama Y, Suzuki C, Suzuki T, Kobayashi T, Suzuki Y, Nakayama T, Takeshima Y, et al. Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome. J Am Soc Nephrology: JASN. 2015;26:271–79.
   PubMed Web of Science ®Google Scholar
• Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrology: JASN. 2011;22:693–703.
   PubMed Web of Science ®Google Scholar
• Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet. 2012;20:263–70.
   PubMed Web of Science ®Google Scholar
• Seyberth HW, Weber S, Komhoff M. Bartter’s and Gitelman’s syndrome. Curr Opin Pediatr. 2017;29:179–86.
   PubMed Web of Science ®Google Scholar
• Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young WF Jr. The management of primary aldosteronism: case detection, diagnosis, and treatment: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2016;101:1889–916.
   PubMed Web of Science ®Google Scholar
• Peters M, Ermert S, Jeck N, Derst C, Pechmann U, Weber S, Schlingmann KP, Seyberth HW, Waldegger S, Konrad M. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2003;64:923–32.
   PubMed Web of Science ®Google Scholar
• Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG. Long-term follow-up of patients with bartter syndrome type I and II. Nephrol Dial Transplant:Official Publication of the European Dialysis and Transplant Association - European Renal Association. 2010;25:2976–81.
   PubMed Web of Science ®Google Scholar
• Browning BL, Browning SR. Genotype imputation with millions of reference samples. Am J Hum Genet. 2016;98:116–26.
   PubMed Web of Science ®Google Scholar
• Loh PR, Danecek P, Palamara PF, Fuchsberger C, Reshef YA, Finucane HK, Schoenherr S, Forer L, McCarthy S, Abecasis GR, et al. A LP. Reference-based phasing using the haplotype reference consortium panel. Nat Genet. 2016;48:1443–48.
   PubMed Web of Science ®Google Scholar
• Moes AD, van Der Lubbe N, Zietse R, Loffing J, Hoorn EJ. The sodium chloride cotransporter SLC12A3: new roles in sodium, potassium, and blood pressure regulation. Pflugers Archiv: European J Physiol. 2014;466:107–18.
   PubMed Web of Science ®Google Scholar
• Simon DB, Lifton RP. The molecular basis of inherited hypokalemic alkalosis: bartter’s and Gitelman’s syndromes. Am J Physiol. 1996;271:F961–6.
   PubMed Web of Science ®Google Scholar
• Reissinger A, Ludwig M, Utsch B, Promse A, Baulmann J, Weisser B, Vetter H, Kramer HJ, Bokemeyer D. 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;25:354–62.
   PubMed Web of Science ®Google Scholar
• Gamba G. Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters. Physiol Rev. 2005;85:423–93.
   PubMed Web of Science ®Google Scholar
• Calo L, Ceolotto G, Milani M, Pagnin E, van den Heuvel LP, Sartori M, Davis PA, Costa R, Semplicini A. Abnormalities of Gq-mediated cell signaling in bartter and Gitelman syndromes. Kidney Int. 2001;60:882–89.
   PubMed Web of Science ®Google Scholar
• Calo L, D’Angelo A, Cantaro S, Bordin MC, Favaro S, Antonello A, Borsatti A. Increased urinary NO2-/NO3- and cyclic guanosine monophosphate levels in patients with Bartter’s syndrome: relationship to vascular reactivity. Am J Kidney Dis: Official Journal of the National Kidney Foundation. 1996;27:784–89.
   PubMed Web of Science ®Google Scholar
• Zantour B, Sfar MH, Chebbi W, Binous MY, Jerbi S. Bartter syndrome revealed at adult age by recurrent nephrolithiasis, associated with hypertension and metabolic syndrome. Tunis Med. 2011;89:405–06.
   PubMedGoogle Scholar
• Ray PE, Liu XH, Inagami T, Chandra RS. Expression of renin in glomerular nonjuxtaglomerular cells in a child with a hypertensive Bartter’s-like syndrome. N Engl J Med. 1998;339:632–34.
   PubMed Web of Science ®Google Scholar
• Chan WK, To KF, Tong JH, Law CW. Paradoxical hypertension and salt wasting in type II bartter syndrome. Clin Kidney J. 2012;5:217–20.
   PubMedGoogle Scholar
• Berry MR, Robinson C, Karet Frankl FE. Unexpected clinical sequelae of Gitelman syndrome: hypertension in adulthood is common and females have higher potassium requirements. Nephrol, Dial, Transplant: Official Publication of the European Dialysis and Transplant Association - European Renal Association. 2013;28:1533–42.
   PubMed Web of Science ®Google Scholar
• Blanchard A, Bockenhauer D, Bolignano D, Calo LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference. Kidney Int. 2017;91:24–33.
   PubMed Web of Science ®Google Scholar
• Bartter FC, Pronove P, Gill JR Jr., MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962. J Am Soc Nephrology: JASN. 1998;9:516–28.
   PubMedGoogle Scholar
• Aoi N, Nakayama T, Sato N, Kosuge K, Haketa A, Sato M, Soma M. Case-control study of the role of the Gitelman’s syndrome gene in essential hypertension. Endocr J. 2008;55:305–10.
   PubMed Web of Science ®Google Scholar
• Liu T, Wang C, Lu J, Zhao X, Lang Y, Shao L. Genotype/Phenotype analysis in 67 Chinese patients with Gitelman’s Syndrome. Am J Nephrol. 2016;44:159–68.
   PubMed Web of Science ®Google Scholar
• Eto K, Onaka U, Tsuchihashi T, Hirano T, Nakayama M, Masutani K, Hirakata H, Urata H, Yasujima MA. case of Gitelman’s syndrome with decreased angiotensin II-forming activity. Hypertens Res: Official Journal of Japanese Society of Hypertension. 2006;29:545–49.
   PubMed Web of Science ®Google Scholar