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Cystinuria is an autosomal recessive disorder in which the kidney, due to a genetic defect in the cystine transporter, is unable to reabsorb cystine in the proximal tubule, resulting in urinary hyperexcretion of amino acids cystine, ornithine, lysine, and arginine (COLA).
Daniel Skinner, 28, of Gosforth, was diagnosed with cystinuria as a baby after his parents first started noticing stones that had been passed into his nappy.
We evaluated the benefit of fractionated 24-h urine collection for 9 patients with homozygous cystinuria (ages 8-65 years, 4 males) (Table 1).
An estimated 10 percent of male Mastiffs have cystinuria.
RARE disorders of metabolism like that of cystinuria may be complicated by kidney stones.
These include Familial Mediterranean Fever, which turns out to be prevelent in Ashkenazic as well as Sephardic Jews, and Cystinuria, which is only common among Libyan Jews.
Although no longer used routinely in rheumatology, D-penicillamine has been used for Wilson's disease, scleroderma, rheumatoid arthritis, and cystinuria.
Several genetic defects in specific carriers needed for tubular reabsorption of specific amino acids cause aminoaciduria, including cystinuria and Hartuup disease.
The tendency to excrete excessive cystine in the urine, called cystinuria, may result in cystine kidney stones.
In cystinuria, the kidneys produce too much of the amino acid cystine.
Other hereditary conditions include Alport's Syndrome, hereditary nephritis, primary hyperoxaluria, and cystinuria.