Autosomal dominant tubulointerstitial kidney disease: of names and genes

被引：23

作者：

Bleyer, Anthony J. ^{[1
]}

Kmoch, Stanislav ^{[2
]}

机构：

[1] Wake Forest Sch Med, Nephrol Sect, Winston Salem, NC 27106 USA

[2] Charles Univ Prague, Fac Med 1, Inst Inherited Metab Disorders, Prague, Czech Republic

来源：

KIDNEY INTERNATIONAL | 2014年 / 86卷 / 03期

关键词：

MUTATIONS; TYPE-1;

D O I：

10.1038/ki.2014.125

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of conditions characterized by autosomal dominant inheritance, a bland urinary sediment with minimal blood and protein, pathologic changes of tubular and interstitial fibrosis, and slowly progressive chronic kidney disease. This commentary discusses recent advances in our medical knowledge of these conditions, including the recent identification of mutations in the MUC1 gene as a cause of ADTKD and changes in terminology proposed by Ekici et al.

引用

页码：459 / 461

页数：3

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