ArticleClinical journal of the American Society of Nephrology : CJASN2008
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
Article in Clinical journal of the American Society of Nephrology : CJASN, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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68 citing papers in PubMed, 137 citations in OpenAlex.
- Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Molecular biology reports · 2026Article
- Comprehensive Splice Pattern Analysis for Previously ReportedKidney international reports · 2025Article
- Modelling Lowe syndrome and Dent-2 disease using zebrafish.Frontiers in cell and developmental biology · 2025Review
- Article
- Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.Molecular biology of the cell · 2024Article
- Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia.Journal of bone and mineral metabolism · 2024Article
- WHAMM functions in kidney reabsorption and polymerizes actin to promote autophagosomal membrane closure and cargo sequestration.bioRxiv : the preprint server for biology · 2024Article
- Inherited Fanconi syndrome.World journal of pediatrics : WJP · 2023Review
- De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature.Frontiers in pediatrics · 2023Article
- A novel nanoluciferase transgenic reporter measures proteinuria in zebrafish.Kidney international · 2022Article
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- Participation of OCRL1, and APPL1, in the expression, proteolysis, phosphorylation and endosomal trafficking of megalin: Implications for Lowe Syndrome.Frontiers in cell and developmental biology · 2022Article
- Management of cataract surgery in Lowe syndrome.International journal of ophthalmology · 2022Article
- Long-term renal outcome in methylmalonic acidemia in adolescents and adults.Orphanet journal of rare diseases · 2021Article
- The complex interplay between kidney injury and inflammation.Clinical kidney journal · 2021Review
- Changes in Bone Mineral Density Following Conventional Oral Phosphonate Treatment of Hypophosphatemic Osteomalacia: A Non-Randomized Controlled Study.International journal of general medicine · 2021Article
- Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.Intractable & rare diseases research · 2020Article
- Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.Journal of human genetics · 2020Article
- Genetics of kidney stone disease.Nature reviews. Urology · 2020Review
8 more citing papers are in PubMed but not listed here.
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7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesLowe 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.
resultsAll patients had low molecular weight proteinuria and albuminuria. Lysosomal enzymuria was elevated in all 11 patients assessed. Fifteen patients had hypercalciuria, and 14 aminoaciduria. Seven patients required bicarbonate and three required phosphate replacement; all others maintained normal serum values without supplementation. None of the patients had detectable glycosuria, and none had clinically overt rickets. GFR was mildly to moderately impaired and highly variable, with a trend of deterioration with age.
conclusionsPatients with Lowe syndrome do not have renal Fanconi syndrome but a selective proximal tubulopathy, variable in extent and dominated by low molecular weight proteinuria and hypercalciuria, the classical features of Dent disease. These findings suggest that OCRL and ClC-5, the chloride channel mutated in Dent disease, are involved in similar reabsorption pathways in the proximal tubule.
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