| Objective Early,individualized and lifelong treatment of WD can significantly improve the prognosis of patients.By summarizing and analyzing the case data of 127 patients,the clues and methods of early diagnosis of WD are summarized and discussed.Methods The clinical data of 127 patients with WD who were clearly diagnosed after hospitalization in the First People ’s Hospital of Yunnan Province from January2003 to May 2022 were retrospectively collected.The general data,initial symptoms,early changes in blood routine,coagulation routine,liver function,serum copper,ceruloplasmin,24-hour urine copper,K-F ring,urine routine and other laboratory examinations,imaging examinations,liver pathological examinations,gene detection and treatment were analyzed in a single center.Statistical methods were used to analyze the age of onset,initial symptoms and meaningful examination results of WD patients.Results 1.General information: The age of 127 patients ranged from 3 to 68 years,with a median age of 23 years.There were 63 males(49.60%)and 64 females(50.39%),with a male to female ratio of 0.98:1.The positive rate of family history was7.87 %.The patients were divided into two groups according to age:36 cases(28.35%)in the first group were < 18 years old,91 cases(71.65%)in the second group were ≥18 years old.The first group was mainly liver damage group(55.56%),neuropsychiatric damage group(13.89%),liver combined with neuropsychiatric damage group(30.56%).The second group was mainly liver combined with neuropsychiatric damage group(43.96%),liver damage group(27.47%),neuropsychiatric damage group(28.57%).2.Clinical classification: Among the 127 patients collected,45(35.43%)were in the liver damage group,with a minimum age of 3 years,a maximum age of 68 years,and a median age of 18 years.There were 31cases(24.41%)in the neuropsychiatric damage group,with a minimum age of 13 years,a maximum age of 49 years,and a median age of 23 years.There were 51 cases(40.16%)in the liver combined with neuropsychiatric damage group,with a minimum age of 9years,a maximum age of 68 years,and a median age of 24 years.Among them,52patients(40.94%)had liver damage as the first symptom,and 71 patients(55.91%)had neuropsychiatric symptoms as the first symptom.There were 4 patients(3.15%)with liver combined with neuropsychiatric impairment as the first symptom.3.Initial symptoms: The initial symptoms of patients in both liver damage group and neuropsychiatric damage group were atypical.Patients in liver damage group mainly had abdominal distension(48.89%),jaundice(33.33%)and abdominal pain(26.67%).Patients in neuropsychiatric damage group mainly had involuntary limb tremor(80.65%),dysarthria(58.06%),limb stiffness and bradykinesia(35.48%).The rare symptoms of all patients were dark tea urine(8.66%),edema of both lower limbs(6.30%),salivation(5.51%),and asymptomatic liver dysfunction(3.94%).4.There were 73 cases(57.48%)with abnormal blood routine.WBC,NEUT,RBC,PLT and HGB were statistically different among the three groups(P<0.05).AST,ALT,CHE,TBIL,DBIL,UBIL,ALB and Ca were statistically different among the three groups(P<0.05).66 cases(51.97%)had abnormal coagulation function.There were 79 cases(62.20%)with abnormal urine routine.5.Special examination: 127 patients were collected for ceruloplasmin detection,124 cases were lower than the lower limit of normal value,the positive rate was 98.43%;among 19 cases of serum copper,17 cases were lower than the lower limit of normal value(89.47%).Among 31 cases of 24-hour urine copper,30 cases showed different degrees of increase(96.77%).Coombs test was negative in 11 cases(100%).Among the 127 patients,126 underwent K-F ring examination under slit lamp,and 114 were positive(90.48%).By comparing the ceruloplasmin,serum copper,24-hour urine copper,Coombs test and K-F ring test between the various types,there was a statistical difference in Coombs test(P<0.05).Liver transient elastography was performed in 17 patients.The liver stiffness of all patients was higher than the normal range,reaching more than 7.3 k Pa.81 cases underwent EEG examination,21 cases(25.93%)expressed abnormal signals.6.Imaging examination: 85 patients underwent abdominal B-ultrasound examination,of which 79 patients(92.94%)showed different degrees of diffuse liver parenchymal injury,hepatosplenomegaly,portal vein widening,and chronic cholecystitis.Twentynine patients underwent abdominal CT examination.Among them,27 patients(93.10%)mainly showed diffuse nodular high-density shadow of liver parenchyma,enlargement of liver and spleen,cirrhosis and portal hypertension.Abdominal MRI was performed in 11 cases,of which 10 cases(90.91%)mainly showed cirrhosis,splenomegaly and diffuse regenerative nodules.Brain MRI was performed in 95 cases,of which 72 cases(75.79%)showed bilateral symmetrical lentiform nucleus,slightly longer T1 and T2 signals in basal ganglia,and slightly higher signal on water suppression images.7.Liver pathological examination: a total of 5 cases of liver biopsy pathology,varying degrees of performance for liver cell copper deposition,hepatic steatosis,portal area lymphocyte infiltration,pseudolobule formation,fibrous tissue hyperplasia,in line with WD pathology.8.Gene detection: ATP7 B gene sequencing was performed in 15 of 127 WD patients,including 5 homozygous mutations and 10 heterozygous mutations.The highest mutation frequency was c.2495A>G(p.K832R),c.2855G>A(p.R952K)and c.3419T>C(p.V1140A)in exons 10,12 and 16.Conclusions 1.The disease can be seen in all age groups,but most of them are young and middle-aged.2.The clinical classification was mainly liver combined with neuropsychiatric damage group,and adolescents were mainly liver damage.3.Ceruloplasmin is the preferred laboratory test for the diagnosis of this disease,and there is no statistical difference between the types.K-F ring detection under slit lamp is an important screening method.In the liver damage group,15 patients had elevated AST and ALT,and AKP,UA,blood Ca and blood P were in a low normal state to varying degrees,which could be used as one of the basis for suspected WD.4.The ATP7 B gene of WD patients with no obvious clinical manifestations and unable to be diagnosed by routine examination is directly analyzed by gene detection,and the diagnosis and screening at the gene level is helpful for early clinical diagnosis. |
PDF Full Text Request