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Renigunta A, Renigunta V, Saritas T, et al. Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function. J Biol Chem 2011; 286:2224. Bleyer AJ, Hart TC, Shihabi Z, et al. Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. Kidney Int 2004; 66:974. Bleyer AJ, Woodard AS, Shihabi Z, et al. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int 2003; 64:36. Cameron JS, Simmonds HA. Hereditary hyperuricemia and renal disease. Semin Nephrol 2005; 25:9. Bates JM, Raffi HM, Prasadan K, et al. Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication. Kidney Int 2004; 65:791. Gubler MC, Antignac C. Renin-angiotensin system in kidney development: renal tubular dysgenesis. Kidney Int 2010; 77:400. Dzau VJ, Pratt RE, Paul M, Nakamura N. Molecular studies of human renin synthesis and gene expression. Cardiovasc Drugs Ther 1988; 2:459. Christodoulou K, Tsingis M, Stavrou C, et al. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease. Hum Mol Genet 1998; 7:905. Wolf MT, Karle SM, Schwarz S, et al. Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. Kidney Int 2003; 64:788. Katabathina VS, Kota G, Dasyam AK, et al. Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics 2010; 30:1509. Meier P, Farres MT, Mougenot B, et al. Imaging medullary cystic kidney disease with magnetic resonance. Am J Kidney Dis 2003; 42:E5. Neumann HP, Zäuner I, Strahm B, et al. Late occurrence of cysts in autosomal dominant medullary cystic kidney disease. Nephrol Dial Transplant 1997; 12:1242. McBride MB, Rigden S, Haycock GB, et al. Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children. Pediatr Nephrol 1998; 12:357. Danovitch GM. Uric acid transport in renal failure. A review. Nephron 1972; 9:291. Gusmano R, Caridi G, Marini M, et al. Glomerulocystic kidney disease in a family. Nephrol Dial Transplant 2002; 17:813. Fairbanks LD, Cameron JS, Venkat-Raman G, et al. Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM 2002; 95:597.

Gusmano R, Caridi G, Marini M, et al. Glomerulocystic kidney disease in a family. Nephrol Dial Transplant 2002; 17:813. Fairbanks LD, Cameron JS, Venkat-Raman G, et al. Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. QJM 2002; 95:597. McBride MB, Simmonds HA, Ogg CS, et al. Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN). A six-year update. Adv Exp Med Biol 1998; 431:7. Lhotta K. Stopping progression in familial juvenile hyperuricemic nephropathy with benzbromarone? Kidney Int 2003; 64:1920. Topic 1685 Version 13.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.4 - C21.36 Licensed to: Southeast Alabama Med Ctr | Support Tag: [1103-89.32.226.102-C9EBEEE8B0-S244013.14]