44例肝豆状核变性患者临床特征、辅助检查结果及疗效评价

肝脏 ›› 2022, Vol. 27 ›› Issue (12): 1318-1321.

44例肝豆状核变性患者临床特征、辅助检查结果及疗效评价

章仁华, 江凯, 陈永莹

215400 江苏太仓市中医医院急诊外科(章仁华);南通市第六人民医院放射科(江凯);无锡市第五人民医院影像科(陈永莹)

收稿日期:2022-01-18 发布日期:2023-01-30
通讯作者: 陈永莹,Email:cyycyy17798737892@163.com
基金资助:
苏州市2018年度科技发展计划项目(SYSD2018031)

Clinical features, auxiliary examination results and therapeutic effect evaluation of 44 patientschildren with hepatolenticular degeneration

ZHANG Ren-hua¹, JIANG Kai², CHEN Yong-ying^3*

1. Department of Emergency,Taicang traditional Chinese medicine Hospital, Jiangsu 215400,China;
2. Department of Radiology, Nantong Sixth People's Hospital, Jiangsu 226000,China;
3. Department of Imaging,Wuxi Fifth People's Hospital, Jiangsu 214000, China

Received:2022-01-18 Published:2023-01-30
Contact: CHEN Yong-ying,Email:cyycyy17798737892@163.com

摘要/Abstract

摘要： 目的汇总44例肝豆状核变性(HLD)患者临床特征、辅助检查结果及疗效等病历资料,旨在加强对该病的认识。方法收集2007年2月—2021年10月期间HLD患者44例(男28例、女16例),年龄(9.3±3.4)岁,年龄2～17岁。HLD符合诊断要求。根据年龄阶段,分为学龄前期(<7岁)、学龄期(7～12岁)及青少年期(>12岁);依据诊断指南分为不同临床类型。结果 44例HLD患儿学龄前期、学龄期及青少年期分别为6例(13.6%)、34例(77.3%)及4例(9.1%);肝型、脑型、混合型及其他类型分别 26例(59.1%)、6例(13.6%)、6例(13.6%)及6例(13.6%),其中各型起病年龄为(8.4±2.0)岁、(11.2±1.2) 岁、(10.4±2.2)岁及(10.5±1.9)岁,肝型年龄显著低于其他类型(P<0.05)。HLD患者首诊症状以肝脏部位多见,其中以肝酶异常(升高)病例最多。HLD患儿K-F环阳性、血铜蓝蛋白阳性、24h尿铜阳性及腹部超声异常分别为33例(75.0%)、43例(97.7%)、43例(97.7%)及38例(83.4%)。学龄前期K-F环阳性率(0%)显著低于学龄期(85.3%)、青少年期(100%)(χ²=18.610, 10.000, P<0.05);学龄前期腹部超声异常率(33.3%)显著低于学龄期(94.1%)、青少年期(100%)(χ²=14.779, 4.444, P<0.05);肝型K-F环阳性率(57.7%)显著低于其他临床类型(均为100%)(χ²均为3.868, P<0.05)。按照治疗方式的不同,HLD患儿中锌剂、青霉胺联合锌剂治疗分别为18例、26例。比较资料可知,两组治疗前24 h尿铜、肝酶正常时24 h尿铜及复发率等差异具有统计学意义(t=8.042, 14.150, χ²=4.011, P<0.05)。结论 HLD患儿临床症状常不典型,个体差异较大,以肝脏症状最为突出。肝型、学龄前期HLD患者K-F环阳性率、腹部彩超异常率显著低于其他组病例。单独应用锌剂或联合青霉胺治疗均对HLD有效,治疗方案优化还需要进一步探究。

关键词: 肝豆状核变性, K-F环, 血铜蓝蛋白, 24 h尿铜

Abstract: Objective To summarize the clinical features, auxiliary examination results and therapeutic effects of 44 patientschildren with hepatolenticular degeneration (HLD), in order to strengthen the understanding of HLD.Methods From February 2007 to October 2021, 44 patients (28 males and 16 females) with HLD were collected, with an average age of (9.3±3.4) years and an age of 2-17 years. HLD meets the diagnostic requirements. According to age, it can be divided into preschool (< 7 years old), school (7 ~ 12 years old) and adolescent (> 12 years old) age. According to the diagnostic guidelines, they are divided into different clinical types.Results Among the 44 patientschildren with HLD, 6 (13.6%), 34 (77.3%) and 4 (9.1%) were in preschool, school and adolescent, respectively. There were 26 cases (59.1%), 6 cases (13.6%), 6 cases (13.6%) and 6 cases (13.6%) of liver type, brain type, mixed type and other types, respectively. The first diagnosis symptoms of HLD patients were mostly in the liver, and abnormal (elevated) liver enzymes were the most common. 34 cases (77.3%), 43 cases (97.7%), 43 cases (97.7%) and 39 cases (88.6%) with positive Kayser-Fleischer ring, positive blood ceruloplasmin, positive 24-hour urine copper and abnormal abdominal ultrasound, respectively. The positive rate of Kayser-Fleischer ring in preschool age (16.7%) was significantly lower than that in school age (85.3%) and adolescence (100%) (χ²=18.610, 10.000, P<0.05). The abnormal rate of abdominal ultrasound in preschool age (50.0%) was significantly lower than that in school age (94.1%) and adolescence (100%) (χ²=14.779, 4.444, P<0.05). The positive rate of Kayser-Fleischer ring in liver type (57.7%) was significantly lower than that in other clinical types (all 100%) (all χ²=3.868, P<0.05). According to different treatment methods, 18 cases of patientschildren with HLD were treated with zinc, 26 cases with penicillamine combined with zinc. Comparing the data, there were significant differences in urine copper before treatment, urine copper after normal liver enzymes and recurrence rate between the two groups (t=8.042, 14.150, χ²=4.011, P<0.05).Conclusion Clinical symptoms of patientschildren with HLD are often atypical, and individual differences are large, especially liver symptoms. The positive rate of Kayser-Fleischer ring and abnormal rate of abdominal color Doppler ultrasound in patients with HLD of type I and preschool age were significantly lower than those in other groups. Zinc alone oror combined with penicillamine areis effective in the treatment of HLD, and the optimization of treatment plan needs further exploration.

Key words: Hepatolenticular degeneration, Kayser-Fleischer ring, Blood ceruloplasmin, Urine copper in 24 h

章仁华, 江凯, 陈永莹. 44例肝豆状核变性患者临床特征、辅助检查结果及疗效评价[J]. 肝脏, 2022, 27(12): 1318-1321.

ZHANG Ren-hua, JIANG Kai, CHEN Yong-ying. Clinical features, auxiliary examination results and therapeutic effect evaluation of 44 patientschildren with hepatolenticular degeneration[J]. Chinese Hepatolgy, 2022, 27(12): 1318-1321.

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