- Abstract:
-
The annual urinary screening of Japanese children above 3 yr of age has identified a progressive proximal renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to three X-linked proximal renal tubular disorders that are due to mutations in the renal chloride channel gene, CLCN5. We have investigated four unrelated Japanese kindreds wit...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1172/jci119262
-
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- Journal:
- The Journal of clinical investigation
- Volume:
- 99
- Issue:
- 5
- Pages:
- 967-974
- Publication date:
- 1997-03-05
- DOI:
- EISSN:
-
1558-8238
- ISSN:
-
0021-9738
- URN:
-
uuid:8031df18-ea84-4e92-b9b0-c08b8e6e2e72
- Source identifiers:
-
18537
- Local pid:
- pubs:18537
- Language:
- English
- Keywords:
- Copyright date:
- 1997
Journal article
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
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