Pediatric Wilson's Disease: Presentation and Management

兒童威爾森氏症：其臨床表現及治療

Avi On ； Ha-Joo Choi ； Melvin B. Heyman ； Jorge Vargas ； Marvin E. Ament

《Acta Paediatrica Sinica》 38卷2期 (1997/04) Pp. 98-103

https://doi.org/10.7097/APS.199704.0098

摘要

本研究包括十一句十八歲以下威爾森氏症兒童（男性四位，女性七位）。平均發病年齡爲11.2±3.9(SD)歲，平均診斷之年齡爲13.3±3.4(SD)歲，所有病人在診斷時均有肝臓之表現：肝硬化(6名)、慢性肝炎(2名)、及猛暴性肝衰竭(3名)。三名病人在診斷時無症狀，兩名病人出現未曾報告的臨床症狀：一位爲視覺模糊，另一位爲無膽石性膽囊炎。在診斷時，六位有Kayser Fleischer環，五位有溶血性貧血。
三位猛暴性肝衰竭的病人均有溶血、低血清轉氨酵素及鹼性磷酸酵素，這些發現可能有助於在此種表現下快速斷威爾森氏症。
十位病人以青黴氨(penicillamine)治療。四位病人接受肝臓移植，其中兩位是猛暴性肝衰竭，一位病人在等待肝臓移植期間死亡，其他病人均存活且無症狀。
在兒科病人中必須注意威爾森氏症的不同表現，以即時在到正確診斷並盡快開始做正確的治療。

關鍵字

威爾森氏症 ； 無膽石性膽囊炎 ； 視覺模糊 ； 肝臓移植

並列摘要

Eleven patients (4 males, 7 females) with Wilson's disease who presented before 18 years of age are described. The mean age onset of symptoms was 11.2±3.9 (SD) years. The mean age at diagnosis was 13.3±3.4 (SD) years. All patients had hepatic manifestations of the disease when diagnosed: cirrhosis (6 patients), chronic hepatitis (2) and fulminant hepatic failure (3). Three patients were asymptomatic at diagnosis. Two of the symptomatic patients presented with new undescribed manifestations: one with blurred vision and the other with acalculous cholecystitis. At diagnosis, 6 patients had Kayser Fleischer rings and 5 had hemolytic anemia. The three patients with fulminant hepatic failure had hemolysis with relatively low serum aminotransferase and alkaline phosphatase levels, possibly helpful findings for rapid diagnosis of Wilson's disease in such presentation. Ten patients were treated with penicillamine. Liver transplantation was performed in 4 patients, 2 of which presented with fulminant hepatic failure. One patient died while waiting for liver transplantation, the remainder of the patients live free of symptoms. It is important to be aware of the different manifestations of Wilson's disease in the pediatric population, in order to make appropriate evaluations in a timely manner to facilitate early diagnosis and appropriate treatment.

並列關鍵字

Wilson's disease ； acalculous cholecysitis ； blurred vision ； liver transplantation