Article
Muscle involvement in Dent disease 2.
Pediatric nephrology (Berlin, Germany) - 1 Nov 2014
Park Eujin, Choi Hyun Jin, Lee Jiwon M, Ahn Yo Han, Kang Hee Gyung, Choi Yoo Mee, Park Se Jin, Cho Hee Yeon, Park Yong-Hoon, Lee Seung Joo, Ha Il Soo, Cheong Hae Il
Abstract excerpt
BACKGROUND: Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). OCRL mutations can also cause Lowe syndrome. In some cases it is difficult to differentiate Dent disease 1 and 2 on the basis of clinical features only without genetic tests. Several studies have shown differences in serum levels of muscle enzymes between these...
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