The Oculocerebrorenal Syndrome of Lowe

Coca, Steven G.; Reilly, Robert F.

doi:10.1016/b978-0-12-449851-8.00034-6

Cited by 1 publication

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“…This gene contains 24 exons plus an alternative spliced exon 18a [50,51]. It has previously been linked to the oculocerebrorenal syndrome of Lowe, which is characterized by congenital cataracts, severe mental retardation, and renal defects very similar to those associated with Dent's disease [52]. Some patients with Lowe syndrome have renal tubular proximal acidosis, which is absent in Dent's disease [16,53,54].…”

Section: Genes Associated With Dent's Diseasementioning

confidence: 97%

Dent’s disease: clinical features and molecular basis

2010

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Dent's disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability. Patients also present variable manifestations of proximal tubule dysfunctions, such as aminoaciduria, glucosuria, hyperphosphaturia, kaliuresis, and uricosuria, consistent with renal Fanconi syndrome. Dent's disease affects mainly male children, and female carriers are generally asymptomatic. In two-thirds of patients, the disease is caused by mutations in the CLCN5 gene, which encodes the electrogenic chloride/proton exchanger ClC-5. A few patients have mutations in OCRL1, the gene associated with the oculocerebrorenal syndrome of Lowe, which encodes a phosphatidylinositol-4,5-biphosphate-5-phosphatase (OCRL1). Both ClC-5 and OCRL1 are involved in the endocytic pathway for reabsorption of LMW proteins in the proximal tubule. This review will provide an overview of the important phenotypic characteristics of Dent's disease and summarize the molecular data that have significantly increased our comprehension of the mechanisms causing this disease.

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