- genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in an excess of cystine in the urine (cystinuria) and the formation of cystine stones. Cystinuria is the most common defect in the transport of an amino acid. Although cystine is not the only overly excreted amino acid in cystinuria, it is the least soluble of all naturally occurring amino acids. Cystine tends to precipitate out of urine and form stones (calculi) in the urinary tract. Small stones are passed in the urine. However, big stones remain in the kidney (nephrolithiasis) impairing the outflow of urine while medium-size stones make their way from the kidney into the ureter and lodge there further blocking the flow of urine (urinary obstruction). Obstruction of the urinary tract puts pressure back up on the ureter and kidney. causing the ureter to widen (dilate) and the kidney to be compressed. Obstruction also causes the urine to be stagnant (not moving), an open invitation to repeated urinary tract infection. The pressure on the kidneys and the urinary infections results in damage to the kidneys. The damage can progress to renal insufficiency and end-stage kidney disease, requiring renal dialysis or a transplant. The stone are responsible for all the signs and symptoms of cystinuria, including: Hematuria — blood in the urine; Flank pain — pain in the side, due to kidney pain; Renal colic – intense, cramping pain due to stones in the urinary tract; Obstructive uropathy — urinary tract disease due to obstruction; and Urinary tract infections. There are several genetic types of cystinura. Cystinuria type I is caused by mutation in a gene called the SLC3A1 amino acid transporter gene located on chromosome 2p. Cystinuria type III appears to be due to mutation at a separate gene locus.
For a fuller understanding of cystinuria, including the diagnosis, the different modes of treatment, the genetics of cystinuria and the prognosis for persons with this disease, please see Cystinuria.
* * *Excessive urinary excretion of cystine, along with lysine, arginine, and ornithine, arising from defective transport systems for these acids in the kidney and intestine; renal function is sometimes compromised by cystine crystalluria and nephrolithiasis. There are at least three forms of c., which are distinguished by the severity of urinary excretion of cystine in obligate carriers; all with autosomal recessive inheritance. Types I and II c. are allelic disorders caused by mutation in the solute carrier family 3 gene (SLC3A1), which is an amino acid transporter gene on chromosome 2q. Type III is caused by mutation at a separate locus. [cystine + G. ouron, urine]
* * *cys·tin·uria .sis-tə-'n(y)u̇r-ē-ə n a metabolic defect characterized by excretion of excessive amounts of cystine in the urine and sometimes by the formation of stones in the urinary tract and inherited as an autosomal recessive trait
* * *n.an inborn error of metabolism resulting in excessive excretion of the amino acid cystine in the urine due to a defect of reabsorption by the kidney tubules. It may lead to the formation of cystine stones in the kidney.
* * *cys·tin·uria (sis″tĭ-nuґre-ə) an autosomal recessive disorder of amino acid transport caused by mutations in the SLC3A1 (locus: 2p16.3) and SLC7A9 (locus: 19q13.1) genes, which encode amino acid transporter components, characterized by defective intestinal and renal tubular reabsorption of cystine and the dibasic amino acids ornithine, lysine, and arginine. The chief clinical manifestation is the formation of urinary cystine calculi. cystinuric adj
Medical dictionary. 2011.
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Cystinuria — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E … Wikipedia
cystinuria — cystinuria. См. цистинурия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
cystinuria — /sis teuh noor ee euh, nyoor /, n. Pathol. an inherited metabolic disorder that results in the excessive excretion of certain amino acids, esp. cystine, in the urine. [1850 55; CYSTINE + URIA] * * * ▪ pathology hereditary error of… … Universalium
cystinuria — noun Etymology: New Latin Date: 1853 a metabolic defect characterized by excretion of excessive amounts of cystine in the urine and inherited as an autosomal recessive trait … New Collegiate Dictionary
cystinuria — noun The presence of cystine in the urine … Wiktionary
cystinuria — cys·ti·nu·ria … English syllables
cystinuria — n. an inborn error of metabolism resulting in excessive excretion of the amino acid cystine in the urine due to a defect of reabsorption by the kidney tubules. It may lead to the formation of cystine stones in the kidney … The new mediacal dictionary
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International Cystinuria Foundation — The International Cystinuria Foundation (ICF) is a Colorado based nonprofit organization that provides educational resources to individuals affected by cystinuria. Its mission is to strengthen, educate, and further the general well being of the… … Wikipedia
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