Seminars in Nephrology
Volume 30, Issue 4 , Pages 366-373 , July 2010

Hereditary Interstitial Kidney Disease

  • Anthony J. Bleyer, MD, MS

      Affiliations

    • Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, NC
    • Corresponding Author InformationAddress reprint requests to Anthony J. Bleyer, MD, MS, Section on Nephrology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157
    • ,
  • P. Suzanne Hart, PhD

      Affiliations

    • Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
    • ,
  • Stanislav Kmoch, PhD

      Affiliations

    • Center for Applied Genomics, Institute for Inherited Metabolic Disorders and Institute of Pathophysiology, Charles University in Prague, First Faculty of Medicine, Prague, Czech Republic

References 

  1. Hildebrandt F, Omram H. New insights: nephronophthisis-medullary cystic kidney disease. Pediatr Nephrol. 2001;16:168–176
  2. Serafini-Cessi F, Malagolini N, Cavallone D. Tamm-Horsfall glycoprotein: biology and clinical relevance. Am J Kidney Dis. 2003;42:658–676
  3. Hoyer JR, Sisson SP, Vernier RL. Tamm-Horsfall glycoprotein ultrastructural immunoperoxidase localization in rat kidney. Lab Invest. 1979;41:168–173
  4. Malagolini N, Cavallone D, Serafini-Cessi F. Intracellular transport, cell-surface exposure and release of recombinant Tamm-Horsfall glycoprotein. Kidney Int. 1997;52:1340–1350
  5. Raffi HS, Bates JM, Laszik Z, Kumar S. Tamm-Horsfall protein protects against urinary tract infection by proteus mirabilis. J Vasc Surg. 2009;181:2332–2338
  6. Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, 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
  7. Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, et al. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet. 2003;12:3369–3384
  8. Choi SW, Ryu OH, Choi SJ, Song IS, Bleyer AJ, Hart TC. Mutant Tamm-Horsfall glycoprotein accumulation in the endoplasmic reticulum induces apoptosis that is reversed by colchicine and sodium 4-phenylbutyrate. J Am Soc Nephrol. 2005;16:3006–3014
  9. Vylet'al P, Kubiova M, Kalbacova M, Hodanvoa K, Baresova V, Stiburkova B, et al. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int. 2006;70:1155–1169
  10. Bleyer AJ, Hart TC, Shihabi Z, Robins V, Hoyer JR. Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. Kidney Int. 2004;66:974–977
  11. Bleyer AJ, Woodard AS, Shihabi Z, Sandhu J, Zhu H, Satko SG, et al. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int. 2003;64:36–42
  12. Neumann HPH, Zauner I, Strahm B, Bender BU, Schollmeyer P, Blum U, et al. Late occurrence of cysts in autosomal dominant medullary cystic kidney disease. Nephrol Dial Transplant. 1997;12:1242–1246
  13. Eieselbach RE, Steele TH. Intrinsic renal disease leading to abnormal urate excretion. Nephron. 1975;14:81–87
  14. Wolf MTF, Mucha BE, Attanasio M, Zalewski I, Karle SM, Neumann HPH, 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
  15. McBride MB, Simmonds HA, Ogg CS, Cameron JS, Rigden CS, Rees L, et al. Efficacy of Allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN): a six-year update. In:  Griesmacher EA editors. Purine and pyrimidine metabolism in man IX. New York: Plenum Press; 1998;p. 7–11
  16. Moro F, Simmonds HA, Cameron JS, Ogg CS, Williams GD, McBride MB, et al. Does allopurinol affect the progression of familial juvenile gouty nephropathy?. In:  Harkness RA, et al. editor. Purine and pyrimidine metabolism in man VII. New York: Plenum Press; 1991;p. 199–202
  17. Hamada T, Ichida K, Hosoyamada M, Mizuta E, Yanagihara K, Sonoyama K, et al. Uricosuric action of losartan via the inhibition of urate transporter 1 (URAT 1) in hypertensive patients. Am J Hypertens. 2008;21:1157–1162
  18. Zivna M, Hulkova H, Marignon M, Hodanova K, Vylet'al P, Kalbacova M, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Human Genet. 2009;85:204–213
  19. Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int. 2002;62:1385–1394
  20. Wolf MTF, Mucha BE, Hennies HC, Attanasio M, Panther F, Zalewski I, et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet. 2006;119:649–658

PII: S0270-9295(10)00095-1

doi: 10.1016/j.semnephrol.2010.06.003

Seminars in Nephrology
Volume 30, Issue 4 , Pages 366-373 , July 2010

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