Aydogdu Sultan Durmus, Kirel Birgul, Coskun Turgay, Kose Suna
Department of Pediatrics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
Scand J Urol Nephrol. 2009;43(2):138-41. doi: 10.1080/00365590802625060.
Cystinuria is an inherited transport disorder due to defects in intestinal and renal transport of cystine and dibasic amino acids. Early diagnosis is required for some general and specific treatments because cystinuric patients have an increased risk of recurrent urinary stone formation. The prevalence of cystinuria varies widely in different countries. The aim of this study is to determine the prevalence of cystinuria among schoolchildren in Eskisehir, a central Anatolian city in Turkey.
The sodium cyanide-nitroprusside spot test was applied to the first morning urine samples from 8260 schoolchildren (4087 female, 4173 male, aged between 6 and 12 years). Urine and blood amino acids were determined with paper chromatography and special cystine-homocystine chromatography were performed if a child had a positive spot-test result. Urinary cystine levels of two children were measured quantitatively.
Spot-test results were positive in four students. Increased levels of cystine and dibasic amino acids in the urine were determined with paper chromatography and cystine spots were also detected with special cystine-homocystine chromatography for these four students. Urinary cystine levels were elevated in two children whose urine could be studied. The prevalence of cystinuria in this study was 1:2065. There was no history or symptoms related to urolithiasis in these students.
The prevalence of cystinuria in this study is higher than many other countries. Patients in Turkey with urinary stones or with symptoms related to urolithiasis must also be investigated for cystinuria.
胱氨酸尿症是一种遗传性转运障碍疾病,由肠道和肾脏对胱氨酸及二碱基氨基酸的转运缺陷所致。由于胱氨酸尿症患者复发性尿路结石形成的风险增加,一些一般和特殊治疗需要早期诊断。胱氨酸尿症在不同国家的患病率差异很大。本研究的目的是确定土耳其安纳托利亚中部城市埃斯基谢希尔学龄儿童中胱氨酸尿症的患病率。
对8260名学龄儿童(4087名女性,4173名男性,年龄在6至12岁之间)的晨尿样本进行氰化钠-硝普钠斑点试验。采用纸色谱法测定尿液和血液中的氨基酸,如果儿童斑点试验结果为阳性,则进行特殊的胱氨酸-同型胱氨酸色谱分析。对两名儿童的尿胱氨酸水平进行了定量测定。
4名学生的斑点试验结果呈阳性。通过纸色谱法测定,这4名学生尿液中的胱氨酸和二碱基氨基酸水平升高,特殊的胱氨酸-同型胱氨酸色谱分析也检测到了胱氨酸斑点。对两名儿童可研究的尿液进行检测,其尿胱氨酸水平升高。本研究中胱氨酸尿症的患病率为1:2065。这些学生没有尿路结石的病史或症状。
本研究中胱氨酸尿症的患病率高于许多其他国家。土耳其有尿路结石或有尿路结石相关症状的患者也必须进行胱氨酸尿症的检查。