Редактирование: OCRL (раздел)

==Publications==

{{medline-entry
|title=Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with [[OCRL]] gene mutations.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/27766457
|abstract=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 megalin are excreted into the urine: full-length megalin (C-megalin) and megalin ectodomain (A-megalin). We have explored the role of megalin in the development of LMW proteinuria in patients with [[OCRL]] mutations by determining urinary megalin fractions. We measured A- and C-megalin in spot urine samples from five male patients with [[OCRL]] mutations (median age 9 years), using sandwich enzyme-linked immunosorbent assays, and adjusted the obtained values for excreted creatinine. The results were compared with those of 50 control subjects and one patient with type 1 Dent disease (T1D). All patients demonstrated normal levels of urinary C-megalin. However, patients with [[OCRL]] mutations or T1D showed abnormally low levels of urinary A-megalin, with the exception of one 5-year-old boy with LS, who was the youngest patient enrolled in the study. Decreased excretion of urinary A-megalin in four out of five patients with [[OCRL]] mutations suggests that LMW proteinuria may be caused by impaired megalin recycling within the proximal tubular cells. Homologous enzymes, similar to inositol polyphosphate-5-phosphatase B in mice, may help to compensate for defective [[OCRL]]-1 function during early childhood.
|mesh-terms=* Adolescent
* Aging
* Child
* Child, Preschool
* Dent Disease
* Enzyme-Linked Immunosorbent Assay
* Female
* Humans
* Low Density Lipoprotein Receptor-Related Protein-2
* Male
* Molecular Weight
* Mutation
* Oculocerebrorenal Syndrome
* Phosphoric Monoester Hydrolases
* Proteinuria
* beta 2-Microglobulin
|keywords=* Dent disease
* Inositol polyphosphate-5-phosphatase
* Lowe syndrome
* Megalin
* OCRL
* Tubular proteinuria
|full-text-url=https://sci-hub.do/10.1007/s00467-016-3535-x
}}