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- Title
A review on autosomal dominant tubulointerstitial kidney disease.
- Authors
Ayasreh, Nadia; Miquel, Rosa; Matamala, Ana; Ars, Elisabet; Torra, Roser
- 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 reorderedbased on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification ofterminology, diagnostic criteria and monitoring. So far 4 genes 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, allhave 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.
- Publication
Nefrologia, 2017, Vol 37, Issue 3, p235
- ISSN
0211-6995
- Publication type
Article
- DOI
10.1016/j.nefro.2016.10.024