Clinical features of Wilson's disease: An analysis of 83 cases
10.3969/j.issn.1001-5256.2022.08.023
- VernacularTitle:83例肝豆状核变性患者的临床特征分析
- Author:
Lei JI
1
;
Ying ZHANG
1
;
Li KONG
1
;
Suxian ZHAO
1
;
Po CUI
1
;
Qingshan ZHANG
1
;
Lingbo KONG
1
;
Weiguang REN
1
Author Information
1. Department of Traditional and Western Medical Hepatology, The Third Hospital of Hebei Medical University, Shijiazhuang 050051, China
- Publication Type:Original Articles_Other Liver Diseases
- Keywords:
Hepatolenticular Degeneration;
Disease Attributes;
Diagnosis, Differential
- From:
Journal of Clinical Hepatology
2022;38(8):1843-1846
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical features of patients with Wilson's disease (WD). Methods A retrospective analysis was performed for the clinical data of 83 patients with WD who were admitted to The Third Hospital of Hebei Medical University from April 2013 to August 2021, including clinical manifestations, Imaging examinations, laboratory examinations, liver histopathological examinations, and ATP7B gene testing results. The patients were divided into groups based on different clinical types. A one-way analysis of variance was used for comparison between groups. Results The youngest age was 3 years for the 83 patients with WD, among whom 39 (46.99%) had an age of ≤18 years, with a mean age of 21.16±14.87 years for all 83 patients. Of all patients, 63.86% had liver-type WD, 31 patients (37.35%) had developed liver cirrhosis at the time of consultation, and 5 patients (6.2%) attended the hospital due to acute or acute-on-chronic liver failure. Of all patients, 62(74.69%) were positive for corneal K-F ring, and the positive rate of K-F ring was 66.04% in the patients with liver-type WD. Among the 83 patients, 79(95.18%) had a reduction in blood ceruloplasmin, and 73(87.95%) had an increase in 24-hour urine copper. The liver histopathological results of 25 patients showed varying degrees of inflammation, fibrosis, steatosis, and copper particle deposition in liver tissue. The ATP7B gene testing results of 25 patients showed that c.2333G > T/p.R778L of exon 8 was the most common mutation site. Conclusion Most patients with WD have the manifestation of liver diseases, and the examinations of corneal K-F ring, serum ceruloplasmin, and 24-h urine copper have their own limitations. Liver pathology and ATP7B gene testing can be performed when it is unable to make a confirmed diagnosis.
