Objectives To investigate polymorphism in exon 8 of the SLC 3 A 1 gene in children with urinary cystine calculi in Khartoum. Methods A semi-quantitative chemical method was used to analyse 175 urinary calculi removed surgically from paediatric patients at Soba Teaching Hospital in Khartoum between October 2005 and May 2009. DNA was extracted with phenol chloroform isoamyl alcohol, and exon 8 of the SLC 3 A 1 gene was amplified in a thermocycler and sequenced with an AB3130 genetic autoanalyser. Results Of the 175 stones, 10 were cystine calculi (5.7%). The sex ratio of the patients was 2.3:1 (boys to girls), and the mean age at cystine stone onset was 31.1?±?28.2 months (range, 3–125 months). Of the 10 patients, 8 had a positive family history of calculi formation, 4 had bilateral calculi, 3 had both renal and urinary bladder calculi, and 2 had obstructive acute renal failure. All patients required more than one surgical operation. One patient had a missense mutation M467K in exon 8 of the SLC 3 A 1 gene. Conclusion The prevalence of cystine calculi among urinary calculi in Sudanese children was 5.7%. A family history was found in 80% of children. A mutation ( M467T ) was identified at exon 8 of the SLC 3 A 1 gene in one child.
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机译：目的探讨喀土穆儿童尿胱氨酸结石的SLC 3 A 1基因第8外显子的多态性。方法采用半定量化学方法分析了2005年10月至2009年5月间在喀土穆苏巴教学医院从儿科患者手术切除的175例尿结石。用酚氯仿异戊醇和SLC 3 A 1外显子8提取DNA。该基因在热循环仪中扩增，并用AB3130遗传自动分析仪测序。结果175块结石中，胱氨酸结石10块（5.7％）。患者的性别比为2.3：1（男孩与女孩），胱氨酸结石发作的平均年龄为31.1±28.2个月（范围3–125个月）。在10例患者中，有8例有结石形成家族史，2例有双侧结石，3例同时有肾结石和膀胱结石，2例有阻塞性急性肾衰竭。所有患者均需要进行一项以上的手术。一名患者在SLC 3 A 1基因的第8外显子上有一个错义突变M467K。结论苏丹儿童尿结石中胱氨酸结石的患病率为5.7％。有80％的儿童有家族史。在一个孩子中，SLC 3 A 1基因的第8外显子鉴定出一个突变（M467T）。
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