| Objective:To retrospectively analyze the clinical manifestations,laboratory examination,imaging examination and treatment characteristics of patients with hepatolenticular degeneration in different ages and clinical types.To improve the understanding of hepatolenticular degeneration,reduce the rate of misdiagnosis and missed diagnosis of rare diseases,realize early diagnosis and early treatment,and improve the prognosis.Methods:Clinical data of 372 patients with hepatolenticular degeneration hospitalized in West China Fourth Hospital,Sichuan University from January 2005 to December 2019 were collected.The clinical characteristics of the patients,including general information,clinical symptoms,laboratory examination,imaging examination and treatment plan,were retrospectively analyzed.Results:1.General information:The median age of patients was 18(13.5-24),the minimum age of onset was 3 years and the maximum was 54 years in a total of 372 patients with WD.There were 209 males(56.2%)and 163 females(43.8%)with a male-to-female ratio of 1.28:1.2.Clinical classification:The most common type of patients was brain type for 178 cases(47.8%).101 cases(27.2%)were hepatic type and 93 cases(25%)were mixed type.The median age of patients with brain type and mixed type was higher than that of patients with hepatic type.And the number of patients with brain type and mixed type was significantly higher than that of hepatic type in the older 18 group,with statistical significance.There were 27 patients with WD family history(7.26%).3.Initial symptom:The initial symptom were hepatic disease in 99 cases(26.61%),neuropathy in 232 cases(62.37%),and other first symptoms in 6 cases(1.61%).The other first symptoms including bleeding(gingival bleeding,gastrointestinal bleeding and subcutaneous bleeding),joint pain,thrombocytopenia and 35 cases(9.41%)were found asymptomatic by physical examination and family screening.4.Clinical manifestations:The clinical manifestations of patients with hepatolenticular degeneration are diverse and non-specific.The most common symptoms in this study were limb tremor(56.2%),dysarthria(51.9%),splenomegaly(48.1%),gait instability(36.0%),salivation(33.6%),elevated transaminase(26.1%),hematuria(26.1%)and dysphagia(25.8%).Other rare symptoms include dystonia(13.7%),jaundice(9.7),personality change(8.1%),retarded reaction,flatulence,ascites,etc.In addition,38.1%of patients had been diagnosed with cirrhosis before.By comparing the incidence of hepatic cirrhosis,splenomegaly,jaundice,elevated transaminase,dysphagia,salivation,dysphagia,limb tremor and gait instability in each age group,there were statistically significant differences(P<0.05).5.Laboratory examination:Ceruloplasmin level was detected in 363 cases,0.1-0.2g/L(diagnostic level)in 47 cases(12.9%)and<0.1 g/L(strong evidence level)in 304 cases(83.8%).The positive rate of diagnostic level was 96.7%.There was no significant difference in the different age groups and types of ceruloplasmin(P>0.05).A total of 192 cases(91.9%)were positive for K-F ring.The positive rate of K-F ring was significantly different among different types and age groups(P<0.05).The differences of aspartate aminotransferase(AST),glutamate-alanine aminotransferase(ALT),albumin(ALB),total bilirubin(TBIL),direct bilirubin(DBIL),alkaline phosphatase(ALP),triglyceride(TG),creatinine and urea were statistically significant(P<0.05).Among them,the incidence of hematuria was statistically significant P<0.05).There was no statistical significance in the incidence of proteinuria among different types,P>0.05.AST,ALT,creatinine,urea and ALP showed statistically significant differences among different age groups(P<0.05).ALB,TBIL,DBIL,TG,proteinuria and hematuria had no significant differences among different age groups,P>0.05.The hemoglobin,erythrocytes,platelets,neutrophil absolute count and absolute lymphocyte count showed statistically significant differences among different types(P<0.05).There was no significant difference in the white blood cells and monocyte absolute count among different types(P<0.05).Platelets,white blood cells,absolute lymphocyte count and hemoglobin were significantly different among different age groups(P<0.05).Erythrocytes,neutrophil absolute count and monocyte absolute count showed no significant difference among all age groups(P>0.05).6.Imaging examination and medication:There are 121 patients had completed imaging examination,including 17 cases of hepatic type,70 cases of brain type and 34 cases of mixed type.In this study,sodium dimercaptopropanesulfonate(96.2%)was the main drug used to removal copper,and a few patients were treated with oral penicillamine(2.7%)and zinc sulfate(10.2%)due to poor symptom control.Combination therapy can alleviate extrapyramidal symptoms.In this retrospective study,amantadine(19.6%)and benzothyrol hydrochloride(10.5%)combined therapy with metobar(8.1%)were mostly used.Conclusion:1.The onset of WD is more mainly in adolescents,male is more common than female,and brain type is more common in clinical classification.Brain type and mixed type are mainly adults.2.The firstly onset of WD is most common with neurological symptoms,mainly manifested as limb tremor,dysarthria,etc.And,hepatic disease as the first symptom,with persistent abnormal transaminase,flatulence and fatigue.Other systemic symptoms as the first patients are relatively rare.3.Serum ceruloplasmin<0.1 g/L can be used as a strong predictor of WD and the preferred laboratory index.However,there was no significant difference in serum ceruloplasmin levels among different clinical types.4.Cranial CT and MRI examinations showed specific findings in patients with brain type and mixed type,but there was no characteristic findings or high negative rate in head imaging of simple hepatic type.5.The positive rate of K-F ring in patients with simple hepatic type is lower than that of brain type and mixed type,and the positive rate under 18 years old is lower than that over 18 years old.Therefore,the possibility of hepatic function impairment in juvenile patients with unknown reasons but negative K-F ring should also be vigilant.6.WD can affect the liver,nervous system,cornea,blood,skeletal system and other systems. |
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