Pediatric Wilson’s disease: findings in different presentations. A cross-sectional study

ABSTRACT BACKGROUND: Wilson’s disease (WD) may present with different manifestations: from an asymptomatic state to liver cirrhosis. Here, we aimed to evaluate clinical presentations and laboratory findings and prognoses among WD cases. DESIGN AND SETTING: Cross-sectional study based on patients’ records from the university hospital, İnönü University, Malatya, Turkey. METHODS: The medical records of 64 children with WD were evaluated focusing on the clinical, laboratory and liver biopsy findings in different clinical presentations. RESULTS: The mean age at diagnosis was 8.6 ± 3.26 years (range 3.5-17) and mean length of follow-up was 2.49 years (range 0-9). There were 18 cases (28.1%), 12 (18.8%), 9 (14.1%) and 6 (9.4%) of chronic liver disease, fulminant liver failure, neurological WD and acute hepatitis, respectively. Nineteen (29.7%) were asymptomatic. The most common sign and laboratory finding were jaundice (45.3%) and hypertransaminasemia (85.9%), respectively. The lowest serum zinc level was found in the fulminant liver failure group (P = 0.035). Hepatosteatosis was detected in 35% of the 20 patients who underwent liver biopsy. Among those with hepatosteatosis, 57.1% were asymptomatic. While 35% had copper staining, 25% presented iron accumulation in liver biopsies. Nine cases underwent liver transplantation and seven of these presented fulminant liver failure (77.8%). CONCLUSION: The presentation, symptoms and signs of our cases were similar to those in previously reported series, except for the high proportion of fulminant WD cases. Further studies are needed to clarify the relationship between zinc levels and development of a fulminant course and between iron status and WD.

【摘要 背景】威尔逊病（Wilson’s disease, WD）可呈现多样临床表现，涵盖无症状状态至肝硬化等多种表型。本研究旨在评估威尔逊病患者的临床表现、实验室检查结果及预后情况。
【研究设计与研究场所】基于土耳其马拉蒂亚市因诺努大学附属医院患者病历开展的横断面研究。
【研究方法】本研究对64例儿童威尔逊病患者的医疗病历进行回顾分析，重点聚焦不同临床表现亚型下的临床特征、实验室检查结果及肝活检表现。
【研究结果】患者确诊时平均年龄为8.6±3.26岁（范围3.5~17岁），平均随访时长为2.49年（范围0~9年）。其中慢性肝病18例（28.1%）、暴发性肝衰竭12例（18.8%）、神经型威尔逊病9例（14.1%）、急性肝炎6例（9.4%），另有19例（29.7%）为无症状状态。最常见的体征为黄疸（45.3%），最常见的实验室检查异常为高转氨酶血症（85.9%）。暴发性肝衰竭组患者的血清锌水平最低（P=0.035）。在接受肝活检的20例患者中，35%检出肝脂肪变性；合并肝脂肪变性的患者中，57.1%为无症状状态。肝活检标本中，35%可见铜染色阳性，25%存在铁沉积。9例患者接受了肝移植，其中7例为暴发性肝衰竭亚型（占移植患者的77.8%）。
【研究结论】本研究纳入病例的临床表现、症状与体征与既往报道的研究队列基本一致，仅暴发性威尔逊病患者占比偏高为其差异之处。未来仍需开展进一步研究，以明确血清锌水平与威尔逊病暴发性病程的关联，以及铁代谢状态与威尔逊病的相关性。