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Clinical Study

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review

, , , , , & ORCID Icon show all
Pages 146-151 | Received 22 Apr 2017, Accepted 06 Mar 2018, Published online: 23 Mar 2018

References

  • Bleyer AJ, Hart PS, Kmoch S. Autosomal dominant tubulointerstitial kidney disease, UMOD-related. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews(R). Seattle (WA): University of Washington, Seattle; 1993.
  • Duncan H, Dixon AS. Gout, familial hypericaemia, and renal disease. Q J Med. 1960;29:127–135.
  • Rampoldi L, Scolari F, Amoroso A, et al. The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. Kidney Int. 2011;80:338–347.
  • Moskowitz JL, Piret SE, Lhotta K, et al. Association between genotype and phenotype in uromodulin-associated kidney disease. Clin J Am Soc Nephrol. 2013;8:1349–1357.
  • Hart TC, Gorry MC, Hart PS, et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002;39:882–892.
  • Kudo E, Kamatani N, Tezuka O, et al. Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int. 2004;65:1589–1597.
  • Kumar S, Muchmore A. Tamm-Horsfall protein-uromodulin (1950-1990) ). Kidney Int. 1990;37:1395–1401.
  • van Rooijen JJ, Voskamp AF, Kamerling JP, et al. Glycosylation sites and site-specific glycosylation in human Tamm-Horsfall glycoprotein. Glycobiology. 1999;9:21–30.
  • Santambrogio S, Cattaneo A, Bernascone I, et al. Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage. Biochem Biophys Res Commun. 2008;370:410–413.
  • Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis. 2003;42:658–676.
  • Brunati M, Perucca S, Han L, et al. The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin. eLife. 2015;4:e08887.
  • Williams SE, Reed AA, Galvanovskis J, et al. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet. 2009;18:2963–2974.
  • Vylet'al P, Kublova M, Kalbacova M, et al. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int. 2006;70:1155–1169.
  • Tinschert S, Ruf N, Bernascone I, et al. Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. Nephrol Dial Transplant. 2004;19:3150–3154. European Renal Association.
  • Bernascone I, Vavassori S, Di Pentima A, et al. Defective intracellular trafficking of uromodulin mutant isoforms. Traffic. 2006;7:1567–1579.
  • Jennings P, Aydin S, Kotanko P, et al. Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy. J Am Soc Nephrol. 2007;18:264–273.
  • Smith GD, Robinson C, Stewart AP, et al. Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. Clin J Am Soc Nephrol. 2011;6:2766–2774.
  • Bollee G, Dahan K, Flamant M, et al. Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clin J Am Soc Nephrol. 2011;6:2429–2438.
  • Wei X, Xu R, Yang Z, et al. Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. Am J Nephrol. 2012;36:114–120.
  • Nakayama M, Mori Y, Ota N, et al. A Japanese family suffering from familial juvenile hyperuricemic nephropathy due to a rare mutation of the uromodulin gene. Case Rep Nephrol Urol. 2012;2:15–19.
  • Liu M, Chen Y, Liang Y, et al. Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. Gene. 2013;531:363–369.
  • Alaygut D, Torun-Bayram M, Soylu A, et al. Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy. Turk J Pediatr. 2013;55:637–640.
  • Malakoutian T, Amouzegar A, Vali F, et al. First report of familial juvenile hyperuricemic nephropathy (FJHN) in Iran caused by a novel de novo mutation (E197X) in UMOD. J Mol Genet Med. 2016;10. DOI:10.4172/1747-0862.1000218
  • Kaminska-Pajak KA, Dyga K, Adamczyk P, et al. Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families. Ren Fail. 2016;38:1759–1762.
  • Saxena D, Srivastava P, Phadke SR. A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy. Indian J Nephrol. 2016;26:364–367.
  • Lee MN, Jun JE, Kwon GY, et al. A novel UMOD mutation (c.187T > C) in a Korean family with juvenile hyperuricemic nephropathy. Ann Lab Med. 2013;33:293–296.
  • Huang Y, Huang H, Wang W, Wang W, Xue Z, Zhang YA. pedigree research on mutation sites of the uromodulin-encoding gene from a patient with familial juvenile hyperuricemic nephropathy. Chin J Kidney Dis Investig (Electonic Edition). 2015;4:5.
  • Xia M, Liu M, Wang Y, Liu Y, Wang S, Chen Y. Investigation of uromodulin gene mutations for the diagnosis of familial interstitial nephropathy. Chin J Blood Purif. 2015;1:6.
  • Schaffer P, Gombos E, Meichelbeck K, et al. Childhood course of renal insufficiency in a family with a uromodulin gene mutation. Pediatr Nephrol. 2010;25:1355–1360.
  • Wolf MT, Mucha BE, Attanasio M, et al. Mutations of the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int. 2003;64:1580–1587.
  • Eckardt KU, Alper SL, Antignac C, et al. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management – a KDIGO consensus report. Kidney Int. 2015;88:676–683.
  • Dahan K, Devuyst O, Smaers M, et al. A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol. 2003;14:2883–2893.