Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis
Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis
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外显子组测序与代谢评估相结合诊断儿童尿石症
DOI：
10.1007/s00345-020-03449-9
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发表时间：
2020-09
影响因子：
3.4
通讯作者：
Geng Hongquan
中科院分区：
文献类型：
--
作者：
Zhao Yining;Fang Xiaoliang;Fan Yanjie;Sun Yu;He Lei;Xu Maosheng;Xu Guofeng;Li Yufeng;Huang Yunteng;Yu Yongguo;Geng Hongquan
PurposeTo investigate prevalence of inheritance causes in a early onset urolithiasis cohort and each metabolic subtype.MethodsA retrospective analysis of both metabolic and genomic data was performed for the first 105 pediatric urolithiasis patients who exome sequencing at our hospital from February 2016 to October 2018.测量包括整个队列和每个代谢亚组（高尿酸、低柠檬酸尿、高钙尿、高尿酸尿和胱氨酸结石亚组）中外显子组测序的诊断率。分子诊断和代谢评估之间的一致性也evaluated.ResultsThe本研究涉及一个队列的105名儿童尿石症患者，其中诊断变异确定在38例（36%），包括27原发性高尿酸血症和11胱氨酸尿症。在代谢亚组分析中，41%的高尿酸病例是由单基因缺陷引起的原发性高尿酸，100%的胱氨酸结石可以由单基因缺陷解释。然而，在该队列中，未发现低柠檬酸尿、高钙尿或高尿酸尿的适当遗传原因。分子诊断和代谢evaluation.ConclusionExome测序在一个队列的105名儿童尿石症患者中获得了高一致性（100%），产生了36%的情况下的遗传诊断和分子诊断产量在不同的代谢异常之间的差异很大。
PurposeTo investigate the prevalence of inherited causes in an early onset urolithiasis cohort and each metabolic subgroup.MethodsA retrospective analysis of both metabolic and genomic data was performed for the first 105 pediatric urolithiasis patients who underwent exome sequencing at our hospital from February 2016 to October 2018. Measurements included the diagnostic yield of exome sequencing in the entire cohort and each metabolic subgroup (hyperoxaluria, hypocitraturia, hypercalciuria, hyperuricosuria and cystine stone subgroups). The conformity between molecular diagnoses and metabolic evaluation was also evaluated.ResultsThe present study involved a cohort of 105 pediatric patients with urolithiasis, from which diagnostic variants were identified in 38 patients (36%), including 27 primary hyperoxaluria and 11 cystinuria. In the metabolic subgroup analyses, 41% hyperoxaluria cases were primary hyperoxaluria caused by monogenic defects, and 100% of the causes of cystine stones could be explained by monogenic defects. However, no appropriate inherited causes were identified for hypocitraturia, hypercalciuria, or hyperuricosuria in the cohort. A high conformity (100%) was obtained between the molecular diagnoses and metabolic evaluation.ConclusionExome sequencing in a cohort of 105 pediatric patients with urolithiasis yielded a genetic diagnosis in 36% of cases and the molecular diagnostic yield varies substantially across different metabolic abnormalities.
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影响因子：
2
作者：
Spasovski, Goce;Beck, Bodo B.;Tasic, Velibor
通讯作者：
Tasic, Velibor
影响因子：
--
作者：
T. H. Shepard;Edwin G. Krebs;Lou-sein W. Lee;M. L. Johnson
通讯作者：
T. H. Shepard;Edwin G. Krebs;Lou-sein W. Lee;M. L. Johnson
DOI：
10.2215/cjn.07540715
发表时间：
2016-04-01
影响因子：
9.8
作者：
Braun, Daniela Anne;Lawson, Jennifer Ashley;Hildebrandt, Friedhelm
通讯作者：
Hildebrandt, Friedhelm
影响因子：
0.7
作者：
Cochat, Pierre;Fargue, Sonia;Harambat, Jerome
通讯作者：
Harambat, Jerome
中国大陆肾结石的患病率：系统评价。
影响因子：
4.6
作者：
Wang W;Fan J;Huang G;Li J;Zhu X;Tian Y;Su L
通讯作者：
Su L