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Seminars in Nephrology, 2008
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium. The only clinically significant manifestation is recurrent nephrolithiasis secondary to the poor solubility of cystine in urine.
David Goldfarb
exaly +3 more sources
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium. The only clinically significant manifestation is recurrent nephrolithiasis secondary to the poor solubility of cystine in urine.
David Goldfarb
exaly +3 more sources
CRC Critical Reviews in Clinical Laboratory Sciences, 1988
Cystinuria is an inherited metabolic disease resulting in renal stone formation. An incidence of 1 in 7000 makes it a relatively common genetic disease. The biochemical defect is a carrier protein in the epithelial cells of certain organs. This carrier protein is responsible for the transport of cystine and the dibasic amino acids.
Ronald D. Feld, Zakariya K. Shihabi
openaire +2 more sources
Cystinuria is an inherited metabolic disease resulting in renal stone formation. An incidence of 1 in 7000 makes it a relatively common genetic disease. The biochemical defect is a carrier protein in the epithelial cells of certain organs. This carrier protein is responsible for the transport of cystine and the dibasic amino acids.
Ronald D. Feld, Zakariya K. Shihabi
openaire +2 more sources
Acta Paediatrica, 2006
AbstractCystinuria is an autosomal recessive disorder characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. Following recent progress in the genetic understanding of the disease, the traditional classification, based on the excretion of ...
Luca, Dello Strologo +1 more
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AbstractCystinuria is an autosomal recessive disorder characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. Following recent progress in the genetic understanding of the disease, the traditional classification, based on the excretion of ...
Luca, Dello Strologo +1 more
openaire +2 more sources
The Lancet, 1983
46 pregnancies in patients with cystinuria treated with a high fluid intake alone or in combination with D-penicillamine resulted in 41 normal births. New stones formed in 18 pregnancies, with stone passage early in 4 of them. No patient required stone removal during pregnancy.
M C, Gregory, M A, Mansell
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46 pregnancies in patients with cystinuria treated with a high fluid intake alone or in combination with D-penicillamine resulted in 41 normal births. New stones formed in 18 pregnancies, with stone passage early in 4 of them. No patient required stone removal during pregnancy.
M C, Gregory, M A, Mansell
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Journal of the American Veterinary Medical Association, 1991
A 10-month-old male Siamese cat with dysuria was determined to have cystine crystalluria. Many small calculi composed entirely of cystine were found in the urinary bladder. Measurement of serum and urine amino acids and calculation of fractional reabsorption of amino acids indicated reabsorption defects for cystine, ornithine, lysine, and arginine ...
S P, DiBartola, D J, Chew, M L, Horton
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A 10-month-old male Siamese cat with dysuria was determined to have cystine crystalluria. Many small calculi composed entirely of cystine were found in the urinary bladder. Measurement of serum and urine amino acids and calculation of fractional reabsorption of amino acids indicated reabsorption defects for cystine, ornithine, lysine, and arginine ...
S P, DiBartola, D J, Chew, M L, Horton
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Cystinuria and Dermatomyositis
Clinical Pediatrics, 1970A girl is described who had both cystinuria and dermatomyositis. This associa tion, not previously recorded, may or may not be pathogenetically related.
N P, Fawcett, W L, Nyhan
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Endocrinology and Metabolism Clinics of North America, 1990
Cystinuria is an hereditary disorder of renal and intestinal transport characterized by the excessive urinary excretion of cystine, arginine, lysine, and ornithine. It is inherited as a common recessive gene with allelic mutations. Complementary studies of the plasma response to oral cystine loading, intestinal mucosal transport patterns, and urine ...
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Cystinuria is an hereditary disorder of renal and intestinal transport characterized by the excessive urinary excretion of cystine, arginine, lysine, and ornithine. It is inherited as a common recessive gene with allelic mutations. Complementary studies of the plasma response to oral cystine loading, intestinal mucosal transport patterns, and urine ...
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European Urology, 1981
7 children, 20 months to 11 years old, with cystinuria and renal calculi were studied. Surgical treatment and alpha-mercaptopropionylglycine (MPG) gave satisfactory results in 5 children. The causes of the recurrences in the other 2 children are discussed.
L, Pavanello +6 more
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7 children, 20 months to 11 years old, with cystinuria and renal calculi were studied. Surgical treatment and alpha-mercaptopropionylglycine (MPG) gave satisfactory results in 5 children. The causes of the recurrences in the other 2 children are discussed.
L, Pavanello +6 more
openaire +2 more sources