Case series and literature review of primary hyperoxaluria type 1 in Chinese patients

作者全名："Wu, Jiayu; Song, Jing; He, Yanzhao; Zhong, Cheng; Yang, Qin; Li, Qiu; Wang, Mo"

作者地址："[Wu, Jiayu; Song, Jing; Zhong, Cheng; Yang, Qin; Li, Qiu; Wang, Mo] Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Int Sci & Technol Cooperat Base Child Dev & Crit D, Dept Neurol,Childrens Hosp,Minist Educ,Key Lab Chi, Chongqing 400014, Peoples R China; [He, Yanzhao] Univ Leeds, Woodhouse, Leeds LS2 9JT, England"

通信作者："Wang, M (通讯作者)，Chongqing Med Univ, Natl Clin Res Ctr Child Hlth & Disorders, Int Sci & Technol Cooperat Base Child Dev & Crit D, Dept Neurol,Childrens Hosp,Minist Educ,Key Lab Chi, Chongqing 400014, Peoples R China."

来源：UROLITHIASIS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001091133300001

JCR分区：Q2

影响因子：2

年份：2023

卷号：51

期号：1

开始页：　

结束页：　

文献类型：Review

关键词：Primary hyperoxaluria type 1; AGXT; Gene; China; Children

摘要："Based on the single-center case reports and all reported patients with primary hyperoxaluria type 1 (PH1) in China, this study discussed the clinical and genetic characteristics of this disease retrospectively. We reported and validated a novel genetic variation c.302 T > G: the clinical phenotypes of the two siblings were similar, in which both had onset in infancy, mainly manifested as renal insufficiency, and died within 6 months out of end-stage renal disease. The literature review is the first to summarize the Chinese patients with PH1 up to now. Forty-eight Chinese patients were included, containing 7 adults and 41 children. The median onset age was 51 months, and the ratio of male to female was 2.69:1. It showed a poor prognosis: 51.1% of Chinese primary hyperoxaluria type 1 patients suffered from end-stage renal disease, and 38.9% of patients died. Urolithiasis was the most common clinical manifestation both in adults and children, while infant-onset patients generally presented with renal insufficiency and had a higher mortality of 75.0%. One hundred and forty-nine AGXT mutant alleles are currently known in the Chinese population, c.33dupC and c.815_816insGA were the most common AGXT genes, accounting for 12.0% and 10.1% of allele frequencies, respectively. The exons 1, 2, 6, and 8 were the most common locations of gene variants, accounting for 78% of all variants, which will be promising targets of DNA sequencing for primary hyperoxaluria type 1."

基金机构："The authors thank the patient and their parents for their participation and support. And we thank Mygenostics Gene Technology Co, Ltd (Chongqing, China) for providing whole-exome and Sanger sequencing technology support for this study."

基金资助正文："The authors thank the patient and their parents for their participation and support. And we thank Mygenostics Gene Technology Co, Ltd (Chongqing, China) for providing whole-exome and Sanger sequencing technology support for this study."