Abstract:

Objective To analyze clinical phenotype and survival analysis of hepatolenticular degeneration to promote its early detection, diagnosis, and treatment, and improve the understanding of the disease. Methods Total 106 patients with hepatolenticular degeneration were enrolled and their demographic information, clinical manifestations,auxiliary examination, and survival information were collected and analyzed retrospectively. Results The average age of 106 patients was(20.65±13.06) years, and 81.1% of patients were younger than 30 years old. Regarding of the clinical phenotype of hepatolenticular degeneration, there were 70 cases(66.0%) of liver type, 13 cases(12.3%) of brain type, 0 case of other type, and 23 cases (21.7%) of mixed type. Sixty-two cases (58.5%) had Kayser-Fleischer (K-F) ring, while its distribution had no difference in all types. Among 94 patients who received detection, only 2 cases had normal level of ceruloplasmin, and the others showed decreased levels of it, which were less than 200 mg/L. Urine copper within 24 h was detected in 11 patients, of which the value of it in 10 cases were more than 100 μg. Only 13 patients had definite gene test results, which showed 11 patients had mutations, 7 patients had double mutations, and the most common mutation site was p.Arg778Leu. Follow up with 44 cases, 7 cases were dead from hepatic failure and pulmonary infection. Conclusions Hepatolenticular degeneration occurs in many adolescents, and its’ main clinical manifestations were liver damage and nervous system symptoms. The diagnosis of hepatolenticular degeneration is mainly based on K-F ring, abnormal copper metabolism index and liver function, and abnormal imaging of liver and head. The most common cause of death was liver failure.

Key words: Hepatolenticular degeneration, Clinical manifestation, Copper metabolism index