Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

ABSTRACT:

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, participants, & measurements

The renal phenotype of 16 patients with Lowe syndrome (10.9 +/- 7.0 yr) under care of the authors was characterized to define overlap of symptoms with Dent disease and infer clues about OCRL function. Medical charts of patients were reviewed for data regarding glomerular filtration rate and markers of proximal tubular function.

Results

All patients ha

SUBMITTER: Bockenhauer D 

PROVIDER: S-EPMC2518783 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature