Clinical Characteristics Analysis Of 29 Cases Of Patients With Hepatolenticular Degeneration

Objective: Hepatolenticular degeneration(HLD),also known as Wilson disease(WD),which is a more common type of the hereditary metabolic liver disease,and it is autosomal recessive inheritance,Gene mutations lead to copper metabolism disorders,and excessive copper deposition in the liver,cornea,nervous system,bone and cause organ structure and/or function change,and then cause the corresponding clinical symptoms,it’s mainly clinical manifestation as transaminase elevation,epatosplenomegaly,acute or chronic heaptitis,cirrhosis,neuropsychiatric symptoms,osteoar thropathy and the like.Because of it’s low incidence rate,has no specific clinical symptom,initial sympotom is a common plot of neuropsychic symptom and can happen in all age groups,HLD ofens misdiagnosised as neuropsychopathy.The patients of HLD should reduce the intake of copper,removal of copper excess by chelating agents as soon as a certain diagnosis and the treatment should last lifetime.Thus early diagnosis and early treatment have great significance to improve the prognosis.In this study,through the clinical and statistical analysis of 29 cases of patients with hepatolenticular degeneration,such as age of onset,the first symptom,clinical types,laboratory and imaging examination,treatment and curative effect,improving the awareness of rare diseases and reducing the rate of misdiagnosis and missed diagnosis,to improve prognosis and prevent or delay serious complications,we should diagnose and treat it early.Methods: By retrospective analysis,Collect 29 cases of patients who diagnosed hepatolenticular degeneration in the First Affiliated Hospital of Dalian MedicalUniversity from 2000 to January 2016,Clinical analyzed the date of age onset,initial symptoms,clinical types,some laboratory tests,imaging,misdiagnosis,treatment and curative effect.Using SPSS17.0 statistical software to analysis the age of onest,K-F ring,liver and kidney function test,blood routine test and urine examination.A P value less than 0.05 was considered statistically different,screened statistically significant in all clinical types of hepatolenticular degeneration.Results: Among the 29 cases of patients with hepatolenticular degeneratetion,there were 5 cases of liver type(17.2%),13 cases of neuronal type(44.8%),11 cases of mixed type(37.9%),Liver disease as the first symptom was 6 cases(20.7%),nervous system symptoms as first symptom was 22 cases(75.9%),and limbs skin papules was 1cases(3.4%).The minimum age of onest was 5 years and the maximum was 52 years,average age of onest was(19.28 ± 10.35)years.There were 23 cases of patients were K-F positive(79.3%),there was 1 case with K-F positive of liver type(20%),11 cases of neuronal type(84.6%)and 11 cases of mixed type(100%).K-F positive had significant difference among different clinical type.Ceruloplasmin(CP)was lower than the normal value of 200 mg/L in untreated patients,but there was no significant difference among the different clinical types.In the liver function test,AST,γ –GT,T-BIL had significant difference among the different clinical type,Proportion of lymphocytes in the blood and urea of kidney function test have significant difference among the different clinical types,There was no significant difference among the other types of tests.Conclusion:1.Clinically,the more common first symptoms of hepatolenticular degeneration is neurological symptoms,such as athetosis,walking instability,followed by is liver disease symptoms,such as abnormal liver function,hepatosplenomegaly,yellowish discoloration of skin and mucous membranes and the like.Other system as the first symptoms is rare.Neuronal type and Mixed type is more common than others.2.The age of onset of hepatolenticular degeneration is mainly teenagers,therefore,adolescents with unknown causes of nervous system symptoms or liverfunction damage should be highly alert to HLD.3.Ceruloplasmin is the first examination of hepatolenticular degeneration,but there was no significant difference among the clinical types of HLD.4.K-F ring,AST,γ-GT,T-BIL,LYMPH and urea have significant difference among the different clinical types of hepatolenticular degeneration.K-F ring has higher specificity in the mixed type of hepatolenticular degeneration,and the liver type mainly expresses liver cell damage,such as the increasing of AST,γ-GT,T-BIL.5.Hepatolenticular degeneration can affect the liver,neuropsychiatric,blood system,kidneys,corneas and the immune system.6.Hepatolenticular degeneration is a rare disease,prone to misdiagnosis and missed diagnosis,early diagnosis,early decopper regular treatment to improve the prognosis has great significance,and may delay or prevent serious complications.