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References

These sources were used to develop the Genetics Home Reference condition summary on uromodulin-associated kidney disease.

Bleyer AJ, Hart TC. Genetic factors associated with gout and hyperuricemia. Adv Chronic Kidney Dis. 2006 Apr;13(2):124-30. Review. PubMed citation
Bleyer AJ. Improving the recognition of hereditary interstitial kidney disease. J Am Soc Nephrol. 2009 Jan;20(1):11-3. doi: 10.1681/ASN.2007121330. Epub 2008 Dec 3. PubMed citation
Gene Review: UMOD-Associated Kidney Disease
Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002 Dec;39(12):882-92. PubMed citation
Lens XM, Banet JF, Outeda P, Barrio-Lucía V. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis. 2005 Jul;46(1):52-7. PubMed citation
Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet. 2003 Dec 15;12(24):3369-84. Epub 2003 Oct 21. PubMed citation
Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM. Uromodulin storage diseases: clinical aspects and mechanisms. Am J Kidney Dis. 2004 Dec;44(6):987-99. Review. PubMed citation
Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int. 2006 Sep;70(6):1155-69. Epub 2006 Aug 2. PubMed citation


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