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Article

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.

World journal of pediatrics : WJP - 1 Aug 2011

Lozanovski Vladimir J, Ristoska-Bojkovska N, Korneti P, Gucev Z, Tasic V

Abstract excerpt

BACKGROUND: Oculocerebrorenal (Lowe) syndrome is an X-linked multisystem disease characterized by renal proximal tubulopathy, mental retardation, and congenital cataracts. We present a 19-year-old boy who was found to have low molecular weight proteinuria, hypercalciuria, mild generalized hyperaminoaciduria and intermittent microscopic hematuria at the age of 3. METHODS: Standard clinical and biochemical...

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Identifiers

PMID: 21822997
DOI: 10.1007/s12519-011-0312-6

Genes

CLCN5

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