The Turkish Journal of Pediatrics 2013 , Vol 55 , Num 3
Selective Proximal Renal Tubular Involvement and Dyslipidemia in Two Cousins with Oculocerebrorenal Syndrome of Lowe
1Division of Pediatric Nephrology and Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey, and 2Department of Genomics, Institute for Clinical Chemistry and Pharmacology, Life and Brain Center, University of Bonn, Bonn, Germany. E-mail: Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous p.Ala788Asp mutation in exon 22 of the OCRL gene. They presented with diverse features of selective proximal renal tubular defect and high serum levels of total cholesterol, low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL-C). Keywords : cataract, dyslipidemia, novel mutation, selective proximal renal tubular defect, oculocerebrorenal syndrome of Lowe (OCRL).
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