HPRT1基因变异致Lesch-Nyhan综合征1例报告
收稿日期: 2021-06-22
网络出版日期: 2022-06-07
基金资助
云南省万人计划“名医”专项(2018);云南省出生缺陷与罕见病临床医学研究中心(2019ZF015);云南省出生缺陷与遗传病重点实验室
Lesch-Nyhan syndrome caused by HPRT1 gene variation: a case report
Received date: 2021-06-22
Online published: 2022-06-07
Lesch-Nyhan综合征是一种罕见的X连锁隐性遗传病,在自伤行为出现前,易被误诊为脑瘫,延误诊治。先证者,男,8岁7个月,因发育落后8年余,肌张力异常就诊。多次血生化均提示尿酸增高,遗传学分析结果证实患儿为HPRT1基因c.200_201delTG变异,经ACMG评级为疑似致病性变异,Sanger测序验证发现该变异遗传自患儿母亲,为未报道的新变异,从而确诊为HPRT1基因相关Lesch-Nyhan综合征,口服别嘌醇片、碳酸氢钠片6月后尿酸水平较前明显下降,仍无自伤行为。临床上遇到不明原因脑瘫表现者,应及早行遗传学检查,以帮助早期诊断和遗传咨询。
关键词： HPRT1基因; Lesch -Nyhan综合征; 临床表现; 基因变异; 儿童
李逢潮 , 章印红 , 吕涛 , 朱宝生 , 韩思琪 , 蔡世岩 , 李利 . HPRT1基因变异致Lesch-Nyhan综合征1例报告[J]. 临床儿科杂志, 2022 , 40(6) : 465 -468 . DOI: 10.12372/jcp.2022.21e0944
Lesch-Nyhan syndrome is a rare X-linked recessive genetic disease. Before the occurrence of self-injury, it could be misdiagnosed as cerebral palsy. The proband, male, 8 years and 7 months old, was admitted to the clinic due to over 8 years of developmental retardation and abnormal muscle tone. Multiple blood biochemical tests showed that uric acid was increased. Genetic analysis results confirmed that the patient had c.200 _ 201delTG variation of HPRT1 gene, which was rated as a suspected pathogenic variation by ACMG. Sanger sequencing confirmed that the variation was inherited from the mother and was an unreported new variation, thus the child was diagnosed with HPRT1 gene-associated Lesch-Nyhan syndrome. After oral allopurinol tablets and sodium bicarbonate tablets for 6 months, the level of uric acid decreased significantly, and there was no self-injury behavior. In patients with unexplained cerebral palsy, genetic examination should be performed as early as possible to help early diagnosis and genetic counseling.
Key words： HPRT1 gene; Lesch-Nyhan syndrome; clinical manifestations; gene variant; child
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