Early proximal tubular dysfunction in Lowe's syndrome
نویسندگان
چکیده
منابع مشابه
Early proximal tubular dysfunction in Lowe's syndrome.
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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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,...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2004
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.2003.031187