Abstract: Objective To summarize the clinical features, auxiliary examination results and therapeutic effects of 44 patientschildren with hepatolenticular degeneration (HLD), in order to strengthen the understanding of HLD.Methods From February 2007 to October 2021, 44 patients (28 males and 16 females) with HLD were collected, with an average age of (9.3±3.4) years and an age of 2-17 years. HLD meets the diagnostic requirements. According to age, it can be divided into preschool (< 7 years old), school (7 ~ 12 years old) and adolescent (> 12 years old) age. According to the diagnostic guidelines, they are divided into different clinical types.Results Among the 44 patientschildren with HLD, 6 (13.6%), 34 (77.3%) and 4 (9.1%) were in preschool, school and adolescent, respectively. There were 26 cases (59.1%), 6 cases (13.6%), 6 cases (13.6%) and 6 cases (13.6%) of liver type, brain type, mixed type and other types, respectively. The first diagnosis symptoms of HLD patients were mostly in the liver, and abnormal (elevated) liver enzymes were the most common. 34 cases (77.3%), 43 cases (97.7%), 43 cases (97.7%) and 39 cases (88.6%) with positive Kayser-Fleischer ring, positive blood ceruloplasmin, positive 24-hour urine copper and abnormal abdominal ultrasound, respectively. The positive rate of Kayser-Fleischer ring in preschool age (16.7%) was significantly lower than that in school age (85.3%) and adolescence (100%) (χ²=18.610, 10.000, P<0.05). The abnormal rate of abdominal ultrasound in preschool age (50.0%) was significantly lower than that in school age (94.1%) and adolescence (100%) (χ²=14.779, 4.444, P<0.05). The positive rate of Kayser-Fleischer ring in liver type (57.7%) was significantly lower than that in other clinical types (all 100%) (all χ²=3.868, P<0.05). According to different treatment methods, 18 cases of patientschildren with HLD were treated with zinc, 26 cases with penicillamine combined with zinc. Comparing the data, there were significant differences in urine copper before treatment, urine copper after normal liver enzymes and recurrence rate between the two groups (t=8.042, 14.150, χ²=4.011, P<0.05).Conclusion Clinical symptoms of patientschildren with HLD are often atypical, and individual differences are large, especially liver symptoms. The positive rate of Kayser-Fleischer ring and abnormal rate of abdominal color Doppler ultrasound in patients with HLD of type I and preschool age were significantly lower than those in other groups. Zinc alone oror combined with penicillamine areis effective in the treatment of HLD, and the optimization of treatment plan needs further exploration.

Key words: Hepatolenticular degeneration, Kayser-Fleischer ring, Blood ceruloplasmin, Urine copper in 24 h