Nghiên cứu đặc điểm lâm sàng, cận lâm sàng trên bệnh nhân Wilson người lớn

Abstract

Objective: The aim of this study was to describe the clinical and laboratory features in the adult patients with Wilson disease. Subject and method: A cross-sectional study was conducted on 70 patients. The patients with Wilson disease were diagnosed basing on standards of Ferenci criteria at Cho Ray Hospital from September, 2015 to September, 2020. Result: The median age of the patients in this study was 25.11 ± 7.98 years, and 44 subjects were female (62.9%). The most common clinical symptoms were jaundice (51.4%), splenomegaly (47.1%), ascites (37.1%). The neurological symptoms were sloppy handwriting (41.4%), hand tremor (31.4%), dysarthria (27.1%). Hemolytic anemia, menstrual disorder, arthritis accounted for 35.7%, 35.5%, 25.7% respectively. Three main features of Wilson disease were Kayser-Fleischer ring (77.1%), low serum ceruloplasmin concentration (91.4%), high 24-hour urine copper level (94.3%). Hyperintensity on T₂ magnetic resonance imaging in the region of the basal ganglia was seen in 67.2% of cases. Conclusion: The clinical symptoms of Wilson disease were variable. Kayser-Fleischer rings, low serum ceruloplasmin concentration, high 24-hour urine copper level were typical features of Wilson disease.