Clinical Analysis Of 18 Patients With Hepatolenticular Degeneration

Background and ObjectivesHepatolenticular degeneration (also known as wilson disease) is an autosomal recessive disorder of the copper metabolism leading to the accumulation of this metal in different organs and tissues (especially in liver, brain, cornea, kidney, etc), and excessive deposition of copper can damadge the structure and function of organs. Hepatic and neurological symptoms are the main clinical features of the disease. According to statistics, WD occurs worldwide with an average prevalence of 30 affected individuals per million population. WD presents with liver disease more often in children and younger adult patients than in older adults. WD could easily lead to misdiagnosis, the reasons as follows:complex and diverse clinical manifestations, the lack of indicators in early diagnosis stage.We analyze the clinical data of hepatolenticular degenetation, in order to improve diagnosis of this disease.Materials and Methods18 patients diagnosed with HLD and hospitalized in the second affiliated hospital of Zhengzhou University during January 2005 to December 2010 were selected, their clinical data being retrospectively analyzed by SPSS10.0 with Fisher's exact test, K-W inspection and t-test.ResultsThere were liver dysfunction in 6 cases, brain symptoms in 3 cases, and 9 cases with both of the syndromes.There were 13 patients under the age of 20 (72.2%). The positive rate of K-F ring was 88.2%; all of the cases were examined with the results of reduced ceruloplasm; 73.3% of cases had hingher excretion of copper in 24 hours. There were no statistical significances of K-F ring positive rate, ceruloplasm and cupruresis in the three different types. Of all the cases,8 were found abnormal in ultrasound examination of the abdomen,and another 8 cases showed abnormal lesions in cranial MRI examination. Penicillamine applied to 14 of these patients,12 of them profit from the treatment.ConclusionThe hepatolenticular degenetation disease presents various clinical features. The diagnosis of Wilson disease requires a combination of avariety of clinical symptoms, biochemical tests and family histories. And the Pharmacological treatment of WD is commonly effetive.