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Article

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

Clinical journal of the American Society of Nephrology : CJASN - 1 Sept 2008

Bockenhauer Detlef, Bokenkamp Arend, van't Hoff William, Levtchenko Elena, Kist-van Holthe Joana E, Tasic Velibor, Ludwig Michael

Abstract excerpt

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, &...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Oculocerebrorenal Syndrome

Share to Renal Tubular Transport, Inborn Errors

Source

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Identifiers

PMID: 18480301
DOI: 10.2215/CJN.00520108
PMCID: PMC2518783

Genes

OCRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.PMID 18480301Read ↗

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Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.Semantic proximity Read ↗

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