Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction
نویسندگان
چکیده
منابع مشابه
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
BACKGROUND AND OBJECTIVES Lowe syndrome is defined by congenital cataracts, mental retardation, and proximal tubulopathy and is due to mutations in OCRL. Recently, mutations in OCRL were found to underlie some patients with Dent disease, characterized by low molecular weight proteinuria, hypercalciuria, and nephrocalcinosis. This phenotypic heterogeneity is poorly understood. DESIGN, SETTING,...
متن کاملSelective 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 ...
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The early diagnosis of Lowe's syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe's syndrome. Measurement of these urine parameters is recommended in suspected cases.
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ژورنال
عنوان ژورنال: Clinical Journal of the American Society of Nephrology
سال: 2008
ISSN: 1555-9041,1555-905X
DOI: 10.2215/cjn.00520108