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 in	The 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
Language	English
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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Abstract	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. . . .
AbstractList	Abstract Background. The oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental retardation, and renal tubular dysfunction. We investigated growth, renal function, and serum chemistry values in patients with the oculocerebrorenal syndrome to determine the natural history of the disorder and its heterogeneity with respect to these characteristics. Methods. Twenty-three patients with the oculocerebrorenal syndrome, ranging in age from 4 months to 31 years, were examined. Height was compared with bone age. Renal function was assessed by measurements of proteinuria, urinary volume, and fractional excretions of potassium, phosphate, carnitine, and amino acids. Creatinine clearance was determined as a measure of glomerular function. Results. In the oculocerebrorenal syndrome, linear growth decreases after one year of age; bone age lies between chronologic age and height age. Renal dysfunction occurs in the first year of life, characterized by proteinuria (mean [±SD], 1.38±0.77 g of urinary protein per square meter of body-surface area per day; normal, ≤0.10), generalized aminoaciduria (mean, 686±505 μmol of urinary amino acid per kilogram of body weight per day; normal, 94±45), carnitine wasting (mean fractional excretion, 0.10±0.05; normal, 0.03± 0.01), and phosphaturia progressing into the third decade. Urinary wasting of individual amino acids is milder than in cystinosis, and branched-chain amino acids are relatively spared. Reciprocal serum creatinine levels fall linearly with age, predicting renal failure in the fourth decade. Concentrations of the muscle enzymes creatine kinase, aspartate aminotransferase, and lactate dehydrogenase, as well as of total serum protein, serum α2 -globulin, and high-density lipoproteln cholesterol, are elevated. Conclusions. Renal glomerular deterioration is slowly progressive in the oculocerebrorenal syndrome. Renal tubular dysfunction begins early and persists; most patients require alkalinization therapy, and many benefit from supplemental potassium, phosphate, calcium, or carnitine. Serum enzyme elevations suggest muscle involvement in the oculocerebrorenal syndrome. (N Engl J Med 1991; 324:1318-25.) BACKGROUNDThe oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental retardation, and renal tubular dysfunction. We investigated growth, renal function, and serum chemistry values in patients with the oculocerebrorenal syndrome to determine the natural history of the disorder and its heterogeneity with respect to these characteristics.METHODSTwenty-three patients with the oculocerebrorenal syndrome, ranging in age from 4 months to 31 years, were examined. Height was compared with bone age. Renal function was assessed by measurements of proteinuria, urinary volume, and fractional excretions of potassium, phosphate, carnitine, and amino acids. Creatinine clearance was determined as a measure of glomerular function.RESULTSIn the oculocerebrorenal syndrome, linear growth decreases after one year of age; bone age lies between chronologic age and height age. Renal dysfunction occurs in the first year of life, characterized by proteinuria (mean [+/- SD], 1.38 +/- 0.77 g of urinary protein per square meter of body-surface area per day; normal, less than or equal to 0.10), generalized aminoaciduria (mean, 686 +/- 505 mumol of urinary amino acid per kilogram of body weight per day; normal, 94 +/- 45), carnitine wasting (mean fractional excretion, 0.10 +/- 0.05; normal, 0.03 +/- 0.01), and phosphaturia progressing into the third decade. Urinary wasting of individual amino acids is milder than in cystinosis, and branched-chain amino acids are relatively spared. Reciprocal serum creatinine levels fall linearly with age, predicting renal failure in the fourth decade. Concentrations of the muscle enzymes creatine kinase, aspartate aminotransferase, and lactate dehydrogenase, as well as of total serum protein, serum alpha 2-globulin, and high-density lipoprotein cholesterol, are elevated.CONCLUSIONSRenal glomerular deterioration is slowly progressive in the oculocerebrorenal syndrome. Renal tubular dysfunction begins early and persists; most patients require alkalinization therapy, and many benefit from supplemental potassium, phosphate, calcium, or carnitine. Serum enzyme elevations suggest muscle involvement in the oculocerebrorenal syndrome. The oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental retardation, and renal tubular dysfunction. We investigated growth, renal function, and serum chemistry values in patients with the oculocerebrorenal syndrome to determine the natural history of the disorder and its heterogeneity with respect to these characteristics. Twenty-three patients with the oculocerebrorenal syndrome, ranging in age from 4 months to 31 years, were examined. Height was compared with bone age. Renal function was assessed by measurements of proteinuria, urinary volume, and fractional excretions of potassium, phosphate, carnitine, and amino acids. Creatinine clearance was determined as a measure of glomerular function. In the oculocerebrorenal syndrome, linear growth decreases after one year of age; bone age lies between chronologic age and height age. Renal dysfunction occurs in the first year of life, characterized by proteinuria (mean [+/- SD], 1.38 +/- 0.77 g of urinary protein per square meter of body-surface area per day; normal, less than or equal to 0.10), generalized aminoaciduria (mean, 686 +/- 505 mumol of urinary amino acid per kilogram of body weight per day; normal, 94 +/- 45), carnitine wasting (mean fractional excretion, 0.10 +/- 0.05; normal, 0.03 +/- 0.01), and phosphaturia progressing into the third decade. Urinary wasting of individual amino acids is milder than in cystinosis, and branched-chain amino acids are relatively spared. Reciprocal serum creatinine levels fall linearly with age, predicting renal failure in the fourth decade. Concentrations of the muscle enzymes creatine kinase, aspartate aminotransferase, and lactate dehydrogenase, as well as of total serum protein, serum alpha 2-globulin, and high-density lipoprotein cholesterol, are elevated. Renal glomerular deterioration is slowly progressive in the oculocerebrorenal syndrome. Renal tubular dysfunction begins early and persists; most patients require alkalinization therapy, and many benefit from supplemental potassium, phosphate, calcium, or carnitine. Serum enzyme elevations suggest muscle involvement in the oculocerebrorenal syndrome. 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. . . .
Author	Gahl, William A Rader, Daniel Bernardini, Isa Hoeg, Jeffrey M Charnas, Lawrence R
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contributor: fullname: Delleman
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Snippet	THE oculocerebrorenal syndrome of Lowe is an X-linked recessive disorder mapped to Xq24—26 1 , 2 and characterized by congenital cataracts, cognitive... The oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental retardation, and renal... Abstract Background. The oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental... BACKGROUNDThe oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental retardation, and...
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SubjectTerms	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
Title	Clinical and Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Reference to Growth and Renal Function
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