本文選題：腎結(jié)石 + 胱氨酸尿癥��； 參考：《臨床兒科雜志》2017年12期

【摘要】：目的探討以腎結(jié)石起病的胱氨酸尿癥患兒的臨床表現(xiàn)和基因突變。方法回顧3例以腎結(jié)石起病的胱氨酸尿癥患兒的臨床資料,以及通過PCR擴增測序測定的SLC3A1和SLC7A9基因結(jié)果。結(jié)果 3例男性患兒來自三個無關家系,2例于1歲時、1例于14歲時因腎結(jié)石就診。3例患兒的血氨基酸譜無異常,游離肉堿降低;尿氨基酸譜分析提示胱氨酸、鳥氨酸、精氨酸和蘇氨酸部分增高�；蚍治鲎C實1例為SLC7A9基因c.325GA純合突變,父母為c.325GA雜合突變的攜帶者;另2例均為SLC3A1基因復合雜合突變,分別為c.1365del G和c.1113CA復合雜合突變,c.1897_1898ins TA和c.1093CT復合雜合突變,其父母均為雜合突變攜帶者。經(jīng)確診胱氨酸尿癥后,予枸櫞酸鉀、左卡尼汀等治療,患兒病情好轉(zhuǎn)。結(jié)論對于腎結(jié)石患兒應高度重視可能存在的遺傳代謝病,尿液氨基酸分析、基因檢測是確診胱氨酸尿癥的重要方法。
[Abstract]:Objective to investigate the clinical manifestation and gene mutation of cysturia in children with renal calculi. Methods the clinical data of 3 children with cysturia caused by renal calculi and the results of SLC3A1 and SLC7A9 genes determined by PCR amplification and sequencing were reviewed. Results three male children from three unrelated pedigree 2 patients with renal calculi at the age of 1 had no abnormal amino acid spectrum and decreased free carnitine, the urine amino acid spectrum analysis showed that cystine, ornithine, cysteine, ornithine, cysteine and ornithine. Arginine and threonine increased in part. Gene analysis confirmed that one case was a homozygous mutation of SLC7A9 gene c. 325GA, the parents were carriers of c. 325GA heterozygosity mutation, the other two were multiple heterozygosity mutations of SLC3A1 gene, which were c.1365del G and c. 1113CA complex heterozygosity mutation c. 18971898ins TA and c. 1093CT heterozygosity, respectively. Both parents were heterozygous carriers. After the diagnosis of cysturia, the children were treated with potassium citrate and levacarnitine. Conclusion for children with renal calculi, the possible genetic metabolic diseases, urine amino acid analysis and gene detection are important methods for the diagnosis of cysteinuria.
【作者單位】： 青海大學附屬醫(yī)院;北京大學第一醫(yī)院兒科;
【基金】：國家自然科學基金(No.81471097) 國家自然科學青年基金(No.30872794) 青海省應用基礎研究項目(No.2016-ZJ-730)
【分類號】：R726.9

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2 呂U_玲;經(jīng)典的胱氨酸尿癥1例報告[J];臨床兒科雜志;1994年02期

3 孫炳照;;兒童胱氨酸尿癥[J];國外醫(yī)學.泌尿系統(tǒng)分冊;1982年04期

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本文編號：2110760