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

Summary 

Autosomal-dominant interstitial kidney disease is characterized by slow progression of chronic kidney disease in patients with bland urinary sediment and no or low-grade proteinuria. There are at least three subtypes. Patients with mutations in the UMOD gene encoding uromodulin suffer from precocious gout in addition to chronic kidney failure. Diagnosis can be achieved through genetic analysis of the UMOD gene. Patients with mutations in the REN gene encoding renin suffer from anemia in childhood, hyperuricemia, mild hyperkalemia, and progressive kidney disease. Genetic analysis of the REN gene can be performed to diagnose affected individuals. There is a third form of inherited interstitial kidney disease for which the cause has not been found. These individuals suffer from chronic kidney disease with no other identified clinical signs. Linkage to chromosome 1 has been identified in a number of these families. Proper diagnosis is valuable not only to the affected individual but also to the entire family and can facilitate treatment, transplantation, and research efforts.

Keywords: Hereditary interstitial kidney disease, medullary cystic kidney disease, uromodulin, renin, review

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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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