| Literature DB >> 20807609 |
Anthony J Bleyer1, P Suzanne Hart, Stanislav Kmoch.
Abstract
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. Copyright 2010 Elsevier Inc. All rights reserved.Entities:
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Year: 2010 PMID： 20807609 PMCID： PMC4264385 DOI： 10.1016/j.semnephrol.2010.06.003
Source DB: PubMed Journal: Semin Nephrol ISSN： 0270-9295 Impact factor: 5.299