Article
Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
Pediatric nephrology (Berlin, Germany) - 1 Apr 2017
Suruda Chikushi, Tsuji Shoji, Yamanouchi Sohsaku, Kimata Takahisa, Huan Nguyen Thanh, Kurosawa Hiroyuki, Hirayama Yoshiaki, Tsukaguchi Hiroyasu, Saito Akihiko, Kaneko Kazunari
Abstract excerpt
BACKGROUND: The oculocerebrorenal syndrome of Lowe gene (OCRL) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase (OCRL-1). Mutations in this gene cause Lowe syndrome (LS) or type 2 Dent disease, of which low-molecular-weight (LMW) proteinuria is a characteristic feature. Megalin is considered to play an important role in the development of renal tubular proteinuria. Two forms of...
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