HPRT1基因变异致Lesch-Nyhan综合征1例报告

doi:10.12372/jcp.2022.21e0944

临床儿科杂志 ›› 2022, Vol. 40 ›› Issue (6): 465-468.doi: 10.12372/jcp.2022.21e0944

HPRT1基因变异致Lesch-Nyhan综合征1例报告

李逢潮¹^,², 章印红³^,⁴, 吕涛³^,⁴, 朱宝生³^,⁴, 韩思琪¹^,², 蔡世岩², 李利²^,⁴()

1.昆明理工大学医学院(云南昆明 650500
2.云南省第一人民医院儿科(云南昆明 650032
3.云南省第一人民医院医学遗传科(云南昆明 650032
4.昆明理工大学附属医院(云南昆明 650500

收稿日期:2021-06-22 出版日期:2022-06-15 发布日期:2022-06-07
通讯作者: 李利 E-mail:erklili@sina.com
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

LI Fengchao¹^,², ZHANG Yinhong³^,⁴, LYU Tao³^,⁴, ZHU Baosheng³^,⁴, HAN Siqi¹^,², CAI Shiyan², LI Li²^,⁴()

1. Medical School, Kunming University of Science and Technology, Kunming 650500, Yunnan, China
2. Department of Pediatrics, Yunnan First People’s Hospital, Kunming 650032, Yunnan, China
3. Medical Genetics Department, Yunnan First People’s Hospital, Kunming 650032, Yunnan, China
4. The Affiliated Hospital of Kunming University of Science and Technology, Kunming 650500, Yunnan, China

Received:2021-06-22 Online:2022-06-15 Published:2022-06-07
Contact: LI Li E-mail:erklili@sina.com

摘要/Abstract

摘要：

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

Abstract:

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

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.

LI Fengchao, ZHANG Yinhong, LYU Tao, ZHU Baosheng, HAN Siqi, CAI Shiyan, LI Li. Lesch-Nyhan syndrome caused by HPRT1 gene variation: a case report[J]. Journal of Clinical Pediatrics, 2022, 40(6): 465-468.

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参考文献 19

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HPRT1基因变异致Lesch-Nyhan综合征1例报告

Lesch-Nyhan syndrome caused by HPRT1 gene variation: a case report

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