[威尔逊氏病：哥斯达黎加的儿科经验]

[Wilson's disease: pediatric experience in Costa Rica].

作者信息

Jiménez Gabriela, Cambronero Víctor, Morales Carlos, Mora Alfredo, Guzmán Celina, Jiménez-Rivera Carolina

机构信息

Departamento de Pediatría, División de Gastroenterología, Hepatología y Nutrición, Hospital Nacional de Niños de Costa Rica, Costa Rica.

出版信息

Gastroenterol Hepatol. 2009 Apr;32(4):274-8. doi: 10.1016/j.gastrohep.2008.12.003. Epub 2009 Apr 16.

DOI:10.1016/j.gastrohep.2008.12.003

PMID:19371968

Abstract

BACKGROUND

Costa Rica is known to have a relatively high prevalence of Wilson's disease (WD). The present study describes the clinical presentation and demographic characteristics of patients diagnosed with WD at the Country's National Pediatric Hospital.

METHODS

We performed a retrospective chart review of all patients diagnosed with WD from January 1992 to March 2006.

RESULTS

Thirty-five patients were diagnosed with WD and 69% were male (n=24). Age at presentation was 10+/-2 years (range, 5-15). Clinical presentation included hepatic features in 69% (n=24), hematological features in 11% (n=4) and neurological features in 3% (n=1). Six patients (17%) were asymptomatic siblings. Six children (17%) died from fulminant hepatic failure. Liver biopsies were performed in 21 patients (60%), showing cirrhosis in five. Five patients underwent liver transplantation due to acute liver failure.

CONCLUSIONS

WD should be suspected in children with chronically abnormal liver function tests. The clinical presentation of autochthonous patients was similar to that in children diagnosed in other countries.

摘要

背景

众所周知，威尔逊氏病（WD）在哥斯达黎加的患病率相对较高。本研究描述了该国国家儿童医院确诊为WD的患者的临床表现和人口统计学特征。

方法

我们对1992年1月至2006年3月期间所有确诊为WD的患者进行了回顾性病历审查。

结果

35例患者被诊断为WD，其中69%为男性（n = 24）。就诊时年龄为10±2岁（范围5 - 15岁）。临床表现包括69%（n = 24）有肝脏特征、11%（n = 4）有血液学特征、3%（n = 1）有神经学特征。6例患者（17%）为无症状的同胞。6名儿童（17%）死于暴发性肝衰竭。21例患者（60%）进行了肝活检，其中5例显示为肝硬化。5例患者因急性肝衰竭接受了肝移植。