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: rezantopaloglu@hacettepe.edu.tr
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).