Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.
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).
Division of Pediatric Nephrology and Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. rezantopaloglu@hacettepe.edu.tr.
Rezan
R
Topaloğlu
Michael
M
Ludwig
Aslı
A
Çelebi Tayfur
D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D050171:Dyslipidemias / Q000097:blood / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007687:Kidney Tubules, Proximal / Q000473:pathology*; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics; D035781:Siblings
D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D004247:DNA; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human