摘要
目的探讨表现为肾病综合征的儿童肝豆状核变性的临床特征,提高诊治水平。方法对收治的表现为肾病综合征的肝豆状核变性1例的临床资料进行回顾性分析。结果本例因水肿、尿少、浓茶样尿1.5个月就诊。有急性肝炎、肾炎家族史,病初在当地医院诊断为肾病综合征,予糖皮质激素治疗,效果欠佳。入我院后行各种肝炎病毒标志物检查均阴性,后发现角膜K-F环阳性、血清铜蓝蛋白降低、24 h尿铜高,确诊为肝豆状核变性,予青霉胺、锌剂治疗后病情好转出院。结论临床收治有阳性家族史且多系统损害的肾病综合征患儿,应警惕肝豆状核变性可能,及时行相关特异性检查,避免或减少误诊误治。
Objective To summarize the clinical manifestations of hepatolenticular degeneration（ HLD） in children presenting with nephrotic syndrome in order to improve the level of diagnosis and treatment. Methods Retrospective analysis on clinical data of one case of HLD presenting with nephrotic syndrome was made. Results The patient complained edema,oliguria,tea like urine for one and a half months. The patient had a family history of acute hepatitis and nephritis. He was misdiagnosed as having nephrotic syndrome and treated with Hormones. But Hormone effect was poor. In our hospital after further inspection,all kinds of hepatitis virus markers were negative. K-F ring was found. Serum copper blue protein was decreased. 24 h urine copper was high. HLD was confirmed. The patient was treated with Penicillamine and Zinc,and was discharged after the symptoms were relieved remarkably. Conclusion For the patient presenting with nephrotic syndrome with positive family history and multiple system damage,we should pay attention to HLD,and choose the appropriate medical examination as soon as possible in order to reduce misdiagnosis and mistherapy rates.
出处
《临床误诊误治》
2016年第9期46-48,共3页
Clinical Misdiagnosis & Mistherapy
基金
广东省科技计划项目(2014A020221077)
广东省中医药局建设中医药强省科研项目(20151284)
广州市医药卫生科技项目(20151A011070)
关键词
肝豆状核变性
肾病综合征
儿童
误诊
Hepatolenticular degeneration
Nephrotic syndrome
Child
Misdiagnosis
