cystinuria


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cystinuria

[‚sis·tə′nu̇r·ē·ə]
(medicine)
The presence in the urine of crystals of cystine together with some lysine, arginine, and ornithine.
References in periodicals archive ?
Although cystinuria is a rare disorder, it is the most common of the rare stone disorders, accounting for 6% to 8% of stones in children and 1% of stones in adults (Biyani & Cartledge, 2006; Prot-Bertoye et al.
For optimal monitoring of patients with cystinuria, we stress the necessity of 6-h urine collections, not only to distinguish day and night portions but also for detecting day periods at risk for cystine supersaturation and thus nephrolithiasis.
The gene that causes cystinuria in these breeds has been identified and a simple, reliable genetic test can identify both affected dogs and carriers.
Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
Other uncommon types of stone occasionally occur, such as those formed from the amino acid cystine affect people with cystinuria, an inherited metabolic disorder
Scientists at Bethesda, Maryland, recently located a gene responsible for cystinuria, a common hereditary cause of kidney stones worldwide.
Here, we describe two cases that illustrate the diagnostic workup and medical-surgical management of cystinuria, the most common of the rare kidney stone disorders.
The 16 LESS surgeries included 7 dismembered pyeloplasties (44%), 4 unilateral and 1 bilateral varicocelectomies (31%), 2 simple nephrectomies (13%), 1 renal cyst decortication (6%) in a child with large symptomatic multicystic kidney, and 1 pyelolithotomy (6%) in a child who had cystinuria and a history or multiple percutaneous nephrolithotomies (Table 1).
According to Retrophin, Thiola is approved by the US Food and Drug Administration for the treatment of cystinuria, a rare genetic cystine transport disorder that causes high cystine levels in the urine and the formation of recurring kidney stones, causing loss of kidney function, substantial pain and loss of productivity associated with renal colic and stone passage.
DISCUSSION: In Early 1990s the study of genetic metabolic disorders began with the discovery of the first inborn errors of metabolism, alkaptonuria, pentosuria, cystinuria, and albinism by Sir Archibald Garrod [4].
Cystinuria is an inherited disorder characterized by impaired apical transport of cystine and dibasic amino acids (e.
Key words: Chrysocyon brachyurus, cystinuria, nephrolithiasis, prevention.