Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report

作者：Eckardt Kai Uwe^*; Alper Seth L; Antignac Corinne; Bleyer Anthony J; Chauveau Dominique; Dahan Karin; Deltas Constantinos; Hosking Andrew; Kmoch Stanislav; Rampoldi Luca; Wiesener Michael; Wolf Matthias T; Devuyst Olivier

来源：Kidney International, 2015, 88(4): 676-683.

DOI：10.1038/ki.2015.28

• genetics
• hepatocyte nuclear factor-1 beta
• kidney disease
• mucin-1
• renin
• uromodulin

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1 beta (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.

• 出版日期2015-10