首页|274例儿童肝豆状核变性临床分析

274例儿童肝豆状核变性临床分析

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目的 分析儿童肝豆状核变性的临床特点,提高对儿童肝豆状核变性的关注.方法 回顾性分析2020年11月~2022年10月安徽中医药大学第一附属医院收治的274例肝豆状核变性儿童的临床资料.结果 274例肝豆状核变性患儿中,年龄3~15岁,男女性别比例为1.88∶1,发病中位年龄为5.6岁.临床分型:肝型204例(74.5%)、脑型19例(6.9%)、混合型41例(15.0%)、其他型10例(3.6%).发病年龄:肝型<其他型<混合型<脑型,差异均有统计学意义(P<0.05).274例患儿初诊原因主要为体检、家族史及呼吸道感染发现转氨酶升高,其中无症状转氨酶升高患者135例(49.3%).274例患儿中,血清铜蓝蛋白及24h尿铜异常率分别为100%、96.7%.肝胆脾脏超声、肾脏超声、颅脑磁共振检查异常率分别为81.0%(204/218)、15.6%(34/218)、41.7%(48/115).肝胆脾脏超声及颅脑磁共振检查异常率随年龄增加而升高,肾脏超声及颅脑磁共振检查异常率与临床分型相关.结论 儿童肝豆状核变性发病年龄小、首发症状各异、临床表现多样,与年龄及临床分型密切相关,与性别无关.对于可疑患儿应完善相关检查,以达到早期诊治的目的.
Clinical Analysis of 274 Cases of Wilson's Disease in Children
Objective To analyze the clinical characteristics of children with Wilson's disease,and to improve the attention to Wil-son's disease in children.Methods The clinical data of 274 children with Wilson's disease admitted to the First Affiliated Hospital of Anhui University of Chinese Medicine from November 2020 to October 2022 were retrospectively analyzed.Results Among 274 children with Wilson's disease,aged 3 to 15 years,with a male/female ratio of 1.88∶1,the median age of onset was 5.6 years.Clinical classifica-tion:204 cases(74.5%)of liver type,19 cases(6.9%)of brain type,41 cases(15.0%)of mixed type,10 cases(3.6%)of other type.Age of onset:liver type<other type<mixed type<brain type,the differences were statistically significant(P<0.05).The main reasons for the initial diagnosis of 274 children were physical examination,family history and respiratory tract infection.Among them,135 cases(49.3%)with asymptomatic elevated transaminase.The abnormal rate of serum ceruloplasmin and 24-hour urine copper was 100%and 96.7%,respectively.The abnormal rates of hepatobiliary and spleen ultrasound,kidney ultrasound and craniocerebral mag-netic resonance imaging were 81.0%(204/218),15.6%(34/218)and 41.7%(48/115),respectively.The abnormal rate of hepato-biliary and spleen ultrasound and craniocerebral magnetic resonance examination increased with age,and the abnormal rate of renal ultra-sound and craniocerebral magnetic resonance examination was related to clinical classification.Conclusion The onset age of Wilson's disease in children is young,the initial symptoms are different,which is closely related to age and clinical classification,and has nothing to do with gender.For suspected children,relevant examinations should be improved to achieve the purpose of early diagnosis and treatment.

Wilson's diseaseClinical analysisClinical classificationGenderChildren

花代平、汪瀚、孙兰婷

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230031 合肥,安徽中医药大学研究生院

230031 合肥,安徽中医药大学第一附属医院神经内科

肝豆状核变性 临床分析 临床分型 性别 儿童

安徽省自然科学基金安徽省名中医工作室项目安徽省卫生健康科研项目

2208085MH266中发展[2022]5号AH-WJ2022b036

2024

医学研究杂志
中国医学科学院

医学研究杂志

CSTPCD
影响因子:0.702
ISSN:1673-548X
年,卷(期):2024.53(5)