1. A review on autosomal dominant tubulointerstitial kidney disease.
- Author
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Ayasreh Fierro N, Miquel Rodríguez R, Matamala Gastón A, Ars Criach E, and Torra Balcells R
- Subjects
- Algorithms, Humans, Mutation, Nephritis, Interstitial diagnosis, Pedigree, Practice Guidelines as Topic, Nephritis, Interstitial genetics
- Abstract
In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis. In this article, we present a review of the guidelines and the literature, and some practical recommendations for dealing with this disease., (Copyright © 2016 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.)
- Published
- 2017
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