Autosomal dominant tubulointerstitial kidney disease: of names and genes

作者:Bleyer Anthony J*; Kmoch Stanislav
来源:Kidney International, 2014, 86(3): 459-461.
DOI:10.1038/ki.2014.125

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.

  • 出版日期2014-9