A review on autosomal dominant tubulointerstitial kidney disease

Nefrología (English Edition)

Ana Matamala¹  Nadia Ayasreh²  Roser Torra²  Elisabet Ars³  Rosa Miquel⁴ 

[1] Departamento de Enfermería, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, REDINREN, ISCIII, Barcelona, Spain;Enfermedades Renales Hereditarias, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, REDINREN, ISCIII, Barcelona, Spain;Laboratorio de Biología Molecular, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, REDINREN, ISCIII, Barcelona, Spain;Servicio de Nefrología, Hospital Universitario de Canarias, REDINREN, ISCIII, Tenerife, Spain;

关键词: Autosomal dominant tubulointerstitial kidney disease;    Uromodulin;    Mucin-1;    Hepatocyte nuclear factor beta;    Renin;    Hereditary kidney disease;   

DOI  :  10.1016/j.nefroe.2017.05.012

来源: DOAJ

【 摘 要 】

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 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, 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.

【 授权许可】

Unknown