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Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
- Source :
-
Clinical journal of the American Society of Nephrology : CJASN [Clin J Am Soc Nephrol] 2008 Sep; Vol. 3 (5), pp. 1430-6. Date of Electronic Publication: 2008 May 14. - Publication Year :
- 2008
-
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.<br />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.<br />Results: All 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.<br />Conclusions: Patients 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.
- Subjects :
- Acidosis, Renal Tubular genetics
Acidosis, Renal Tubular physiopathology
Adolescent
Adult
Albuminuria genetics
Albuminuria physiopathology
Amino Acid Metabolism, Inborn Errors genetics
Amino Acid Metabolism, Inborn Errors physiopathology
Child
Child, Preschool
Europe
Fanconi Syndrome physiopathology
Female
Glomerular Filtration Rate
Glycosuria genetics
Glycosuria physiopathology
Humans
Hypercalciuria genetics
Hypercalciuria physiopathology
Hypophosphatemia, Familial genetics
Hypophosphatemia, Familial physiopathology
Lysosomal Storage Diseases genetics
Lysosomal Storage Diseases physiopathology
Male
Mutation
Nephrocalcinosis genetics
Nephrocalcinosis physiopathology
Oculocerebrorenal Syndrome complications
Oculocerebrorenal Syndrome physiopathology
Phenotype
Proteinuria genetics
Proteinuria physiopathology
Renal Tubular Transport, Inborn Errors physiopathology
Fanconi Syndrome genetics
Kidney Tubules, Proximal physiopathology
Oculocerebrorenal Syndrome genetics
Phosphoric Monoester Hydrolases genetics
Renal Tubular Transport, Inborn Errors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1555-905X
- Volume :
- 3
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Clinical journal of the American Society of Nephrology : CJASN
- Publication Type :
- Academic Journal
- Accession number :
- 18480301
- Full Text :
- https://doi.org/10.2215/CJN.00520108