Karim M B, Rahman M M, Islam M S
Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh.
Mymensingh Med J. 2007 Jan;16(1):29-32. doi: 10.3329/mmj.v16i1.244.
Diagnosis of Wilson's disease with hepatic presentation in childhood using clinical and common laboratory parameters is still challenging and is often missed or delayed. The aim of the study was to document the clinical and laboratory parameters of hepatic presentation of Wilson's disease in children. The study was conducted at a tertiary-care hospital in a developing country. Clinical and common laboratory parameters were recorded in 32 Wilson's disease children with hepatic presentation. The diagnosis was based on positive family history, Kayser-Fleischer ring, low serum ceruloplasmin level, elevated basal urinary copper excretion and favorable response to therapy with D-penicillamine. Mean age+/-SD at presentation was 9+/-2.97 years and 21 (65.6%) were boys. Chronic liver disease (21; 65.6%) followed by fulminant hepatic failure 1(6; 18.8%) were the commonest presentation. In the whole group, Kayser-Fleischer ring was found in 21 (65.6%), low serum ceruloplasmin in 16 (50%) and elevated basal urinary copper excretion in all 32 (100%) children. Diagnosis of Wilson's disease was made at presentation on the basis of i) Kayser-Fleischer ring, low serum ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 11 (34.4%), ii) Kayser-Fleischer ring, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 10 (31.2%), iii) elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 6 (18.8%) and iv) low ceruloplasmin, elevated basal urinary copper excretion and favorable response to D-penicillamine therapy in 5 (15.6%) children. Wilson's disease can not be excluded in children presenting with hepatic involvement using the commonly practiced clinical and laboratory parameters. A combination of various clinical and laboratory parameters were used for the diagnosis of Wilson's disease in the studied children with hepatic presentation.
利用临床和常规实验室参数诊断儿童期以肝脏表现为主的威尔逊病仍然具有挑战性，且该病常常被漏诊或延误。本研究的目的是记录儿童威尔逊病肝脏表现的临床和实验室参数。该研究在一个发展中国家的三级医疗医院开展。记录了32例以肝脏表现为主的威尔逊病患儿的临床和常规实验室参数。诊断基于阳性家族史、凯-弗环、血清铜蓝蛋白水平降低、基础尿铜排泄增加以及对青霉胺治疗有良好反应。就诊时的平均年龄±标准差为9±2.97岁，21例（65.6%）为男孩。最常见的表现是慢性肝病（21例；65.6%），其次是暴发性肝衰竭1例（6例；18.8%）。在整个研究组中，21例（65.6%）发现有凯-弗环，16例（50%）血清铜蓝蛋白水平降低，所有32例（100%）儿童基础尿铜排泄增加。基于以下情况在就诊时做出威尔逊病的诊断：i）11例（34.4%）患儿有凯-弗环、血清铜蓝蛋白水平降低、基础尿铜排泄增加以及对青霉胺治疗有良好反应；ii）10例（31.2%）患儿有凯-弗环、基础尿铜排泄增加以及对青霉胺治疗有良好反应；iii）6例（18.8%）患儿基础尿铜排泄增加以及对青霉胺治疗有良好反应；iv）5例（15.6%）患儿血清铜蓝蛋白水平降低、基础尿铜排泄增加以及对青霉胺治疗有良好反应。对于有肝脏受累表现的儿童，使用常用的临床和实验室参数不能排除威尔逊病。在本研究中有肝脏表现的患儿中，综合多种临床和实验室参数用于诊断威尔逊病。
