神经系统症状为主的肝豆状核变性40例临床分析（附1例病例报道）

发布时间：2018-06-13 04:32

本文选题：肝豆状核变性 + K-F环　；参考：《山东大学》2014年硕士论文

【摘要】：目的：通过搜集神经系统为主要临床表现的肝豆状核变性患者病例资料并进行总结分析,提高临床医生对本病的认识,降低误诊、漏诊率,及早干预治疗,从而减少患者致残率及死亡率,改善病情预后。方法：通过山东大学齐鲁医院联众数字化检索软件,回顾性分析2008年01月——2014年03月期间于我院住院治疗的神经系统症状为主要表现的40例肝豆状核变性病例,对其一般资料、临床症状、实验室检查、辅助检查和诊疗经过进行统计和描述。结果：1.40例患者中,神经系统首发38例,肝损害首发2例。神经损害的两大症候群：锥体外系统三大症状为肢体震颤(50%)、构音障碍(40%)、行走不稳(25%)；精神障碍三大症状为认知功能下降(30%)、性格改变(27.5%)、情感障碍(17.5%)。2.所有病例中,K-F环阳性率97.5%,血铜蓝蛋白阳性率92.5%,颅脑影像学检查结果异常率82.5%,合并肝硬化者占62.5%。3.研究中发现HLD患者存在多种特殊临床表现如癫痫发作、睡眠障碍、头晕、头痛、全身舞蹈样动作等。被误诊为其他疾病的HLD患者高达52.5%。4.青霉胺治疗有效率95%。结论：1、HLD多见于青少年,临床表现主要为进行性加重的锥体外系症状、精神障碍及肝损害。HLD伴发的精神障碍表现形式多张多样,主要为焦虑或抑郁,有时甚至是首发表现或唯一症状。2.HLD患者颅脑病灶主要累及基底节、脑干、丘脑,以及某些特殊部位如胼胝体压部、大脑皮层、小脑等,病灶部位、数量及损害程度与临床表现有一定的相关性。3.HLD患者误诊率较高,临床上遇到锥体外系症状伴不明原因肝损害的青少年患者,即使颅脑影像学检查未见异常,也应当引起注意,尽快完善血铜、尿铜及眼裂隙灯检查,以减少漏诊、误诊率,避免延误病情。4.大多数患者给予青霉胺、锌剂及低铜饮食均有效。
[Abstract]:Objective : To summarize and analyze the case data of hepatolenticular degeneration patients whose nervous system is the main clinical manifestation , improve the clinical doctors ' understanding of the disease , reduce misdiagnosis , missed diagnosis rate and early intervention therapy , so as to reduce the morbidity and mortality of the patients and improve the prognosis of the disease .

Methods : A retrospective analysis of 40 cases of hepatolenticular degeneration in our hospital from January 2008 to March 2014 was analyzed retrospectively , and the general data , clinical symptoms , laboratory examination , auxiliary examination and diagnosis were analyzed retrospectively .

Results : Among the 40 cases , 38 cases of the first episode of the nervous system and 2 cases of hepatic injury were the first episode . The three major symptoms of nerve injury were : the three major symptoms of extrapyramidal system were limbs tremor ( 50 % ) , dysthymia ( 40 % ) , walking instability ( 25 % ) ;
Among all the cases , the positive rate of K - F was 97.5 % , the positive rate of blood copper blue protein was 97.5 % , the positive rate of blood copper blue protein was 92 . 5 % , the abnormal rate of brain imaging was 86.5 % , and the patients with liver cirrhosis accounted for 62.5 % . 3 . In the study , it was found that there were a number of special clinical manifestations , such as seizure , sleep disturbance , dizziness , headache , whole body dance , etc .

Conclusion : 1 . HLD is mostly seen in adolescents . The clinical manifestations are mainly characterized by progressive worsening of extrapyramidal symptoms , mental disorders and liver damage . The main manifestations of HLD patients are anxiety or depression , sometimes even the first manifestation or the only symptom .
【学位授予单位】：山东大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.4

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