Clinical and Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Reference to Growth and Renal Function

THE oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder mapped to Xq24—26 1 , 2 and characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction (Fanconi's syndrome). 3 Additional clinical features include areflexia, 4 hypotonia, glaucoma and corne...

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Published inThe New England journal of medicine Vol. 324; no. 19; pp. 1318 - 1325
Main Authors Charnas, Lawrence R, Bernardini, Isa, Rader, Daniel, Hoeg, Jeffrey M, Gahl, William A
Format Journal Article
LanguageEnglish
Published United States Massachusetts Medical Society 09.05.1991
Subjects
Adolescent
Adult
Age
Age Determination by Skeleton
Amino acids
Aspartate aminotransferase
Body Height
Body Weight
Calcium phosphates
Carnitine
Cataracts
Child
Child, Preschool
Cholesterol
Cholesterol - blood
Cognitive ability
Congenital diseases
Creatine
Creatine kinase
Creatinine
Cystinosis
Excretion
Glaucoma
Globulins
Glomerular Filtration Rate
Growth
Humans
Infant
Kidney - physiopathology
L-Lactate dehydrogenase
Laboratories
Lactic acid
Oculocerebrorenal Syndrome - complications
Oculocerebrorenal Syndrome - physiopathology
Phosphaturia
Plasma
Potassium
Proteinuria
Proteinuria - etiology
Renal failure
Renal function
Triglycerides - blood
Urine
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Summary:THE oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder mapped to Xq24—26 1 , 2 and characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction (Fanconi's syndrome). 3 Additional clinical features include areflexia, 4 hypotonia, glaucoma and corneal keloid, 5 and noninflammatory joint swelling of unknown cause. 6 7 8 9 Female carriers can be identified by characteristic lens opacities. 10 11 12 13 The primary biochemical defect in the oculocerebrorenal syndrome remains unknown, despite extensive investigations into mitochondrial function, 14 proteoglycan synthesis, 15 16 17 and nucleotide pyrophosphatase activity. 18 Therapy consists of replacement of renal losses and symptomatic treatment of nonrenal complications, such as extraction of cataracts, management of glaucoma, special education, and physical therapy. . . .
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:0028-4793
1533-4406
DOI:10.1056/NEJM199105093241904