Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations

• Published in: Pediatric nephrology (Berlin, West) Vol. 32; no. 4; pp. 621 - 625
• Main Authors: Suruda, Chikushi, Tsuji, Shoji, Yamanouchi, Sohsaku, Kimata, Takahisa, Huan, Nguyen Thanh, Kurosawa, Hiroyuki, Hirayama, Yoshiaki, Tsukaguchi, Hiroyasu, Saito, Akihiko, Kaneko, Kazunari
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2017; Springer; Springer Nature B.V
• Subjects: Adolescent; Aging - metabolism; beta 2-Microglobulin - urine; Causes of; Child; Child, Preschool; Children; Complications and side effects; Creatinine; Dent Disease - genetics; Dent Disease - urine; Dent's disease; Development and progression; Enzyme-Linked Immunosorbent Assay; Excretion; Female; Genetic aspects; Health aspects; Humans; Inositol polyphosphate; Low Density Lipoprotein Receptor-Related Protein-2 - analysis; Low Density Lipoprotein Receptor-Related Protein-2 - chemistry; Low Density Lipoprotein Receptor-Related Protein-2 - genetics; Low density lipoprotein receptors; Male; Medicine; Medicine & Public Health; Molecular Weight; Mutation; Nephrology; Oculocerebrorenal Syndrome - genetics; Oculocerebrorenal Syndrome - urine; Original Article; Patients; Pediatric research; Pediatrics; Phosphatase; Phosphoric Monoester Hydrolases - genetics; Physiological aspects; Proteinuria; Proteinuria - genetics; Proteinuria - urine; Urology; Japan; Lowe syndrome; OCRL; Inositol polyphosphate-5-phosphatase; Tubular proteinuria; Dent disease; Megalin

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 f...