Characterization of Patients With Heterozygous Cystinuria
Characterization of Patients With Heterozygous Cystinuria
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DOI：
10.1016/j.urology.2012.04.062
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发表时间：
2012-10-01
期刊：
影响因子：
2.1
通讯作者：
Andonian, Sero
中科院分区：
文献类型：
--
作者：
Elkoushy, Mohamed A.;Andonian, Sero
目的描述杂合型（TZ）胱氨酸尿症患者的当代队列，并将其与同期纯合型（MZ）胱氨酸尿症患者的队列进行比较。方法回顾性分析前瞻性收集的数据，为42例连续患者，从2009年9月至2011年9月氰化物-硝普钠试验呈阳性。收集临床数据，包括详细的代谢性结石检查结果，包括两次24小时尿液采集和定量胱氨酸。结果1例患者因尿中胱氨酸排泄量在正常范围内而被排除，2例患者因尿中胱氨酸排泄量在正常范围内而被排除，1例患者因尿中胱氨酸排泄量在正常范围内而被排除。
OBJECTIVE To characterize a contemporary cohort of patients with heterozygous (TZ) cystinuria and compare them with a concurrent cohort of patients with homozygous (MZ) cystinuria.METHODS A retrospective review of prospectively collected data was performed for 42 consecutive patients presenting with a positive cyanide-nitroprusside test from September 2009 to September 2011. Clinical data were collected, including the findings from a detailed metabolic stone workup that included two 24-hour urine collections with quantitative cystine. The patients were divided into 2 groups: those with TZ (30-400 mg/d) and those with MZ (>400 mg/d) cystinuria.RESULTS One patient was excluded because the cystine excretion was within the normal range (