期刊
NEPHROLOGY DIALYSIS TRANSPLANTATION
卷 29, 期 2, 页码 376-384出版社
OXFORD UNIV PRESS
DOI: 10.1093/ndt/gft394
关键词
CLCN5; dent disease; Japanese Dent disease; low-molecular-weight proteinuria; Lowe syndrome; OCRL1
资金
- Japanese Ministry of Education, Culture, Sports, Science and Technology [13671101]
- Japanese Kidney Foundation
- Grants-in-Aid for Scientific Research [24659491, 23390269, 13671101, 24591569, 23591586] Funding Source: KAKEN
Dent disease is an X-linked disorder characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, urolithiasis and renal dysfunction. Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common among European countries and the USA. However, only few studies on Dent disease in Japan, which was originally called 'low-molecular-weight proteinuric disease', have been reported thus far. In this study, we analysed genetic background and clinical phenotype and laboratory data of 86 unrelated Japanese Dent disease patients. The results demonstrated that the genetic basis of Japanese Dent disease was nearly identical to those of Dent disease in other countries. Of 86 unrelated Japanese Dent patients, 61 possessed mutations in CLCN5 (Dent-1), of which 27 were novel mutations; 11 showed mutations in OCRL1 (Dent-2), six of which were novel, and the remaining 14 patients showed no mutations in CLCN5 or OCRL1 (Dent-NI). Despite the similarity in genetic background, hypercalciuria was detected in only 51%, rickets in 2% and nephrocalcinosis in 35%. Although the patients were relatively young, six patients (8%) showed apparent renal dysfunction. Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe and the USA.
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