| Objective:To Summarize and analyze the clinical characteristics and genotypes of Wilson’s disease(WD)in children with liver dysfunction as the first episode,so as to gain more understanding of the disease,improve the early diagnosis rate,and guide clinical work more effectively.Methods: Retrospectively analyzed the medical history and clinical data of 10 WD children with liver dysfunction as the first episode who attended the Department of Pediatric Gastroenterology and Hepatology at the Second Hospital of Hebei Medical University in recent 5 years.The characteristics of clinical manifestation,ceruloplasmin,urine copper,urine routine,liver and spleen B ultrasound,cranial MRI,corneal K-F ring,blood routine,Coombs test,and their corresponding ATP7 B genotype were analyzed and summarized.Results:There were 10 children with WD in this study,including 7 males and 3 females.The average age of onset was 8.20±2.71.Ceruloplasmin(Ceruloplasmin,CP)was <0.1g/L in 8 cases and 0.15～0.2g/L in 2 cases.8cases of urinary copper in 24 hours were higher than normal(5 cases were more than 2 times of normal value,3 cases were more than 1 to 2 times of normal value),and the remaining 2 cases were normal.The blood routine test results showed that 1 case had mild anemia(99g/L)and higher than normal absolute reticulocyte,her Coombs test was negative.Of 10 WD cases,only 1case was positive for K-F ring.No typical abnormalities were found on cranial MRI.Abdominal hepatobiliary ultrasound showed liver cirrhosis in 1 case,mild hepatomegaly in 3 cases and mild splenomegaly in 2 cases.The results of urine routine examination showed that 1 case was positive for urine protein(+),2 cases were positive for urine occult blood,and 7 cases were normal.Aspertate Aminotransferase(AST)and Alanine Aminotransferase(ALT)level were significantly higher than normal at the onset of 10 cases,andγ-glutamyltranspeptidase(GGT)level was significantlyhigher than normal in 8children.The mean ALT was 317.55±171.65,the mean AST was 190.40±94.95.GGT ranged from 36 to 257u/l with an average value of 115 ± 67.42 u/l.After3 months oral treatment with zinc and low dose penicillamine,the values of AST,ALTand GGT were significantly decreased,the mean value of ALT was183.88 ± 114.21,the mean value of AST was 128.80 ± 74.41,the mean value of GGT was 81.36 ± 44.63 u/l.Which means the treatments are working.All the 10 WD cases were compound heterozygous mutation.The ATP7 B gene analysis revealed 10 types of mutations,one of which was deletion of exon 21.c.2333G>T(p.R778L)mutation frequency was the highest in this study,25%;followed by c.3316G>A(p.V1106I),15%;and c.2621C>T(p.A874V),10%;c.2975C>T(p.P992L),10%.Conclusions:1.The 10 WD children with liver dysfunction as the first episode were all characterized by significantly elevated liver enzymes(100%),could also be accompanied by an increase in GGT(80%).The positive rate of ceruloplasmin detection was high(100%),and the positive rate of 24 h urine copper detection was relatively high(80%).The positive rate of hemolytic anemia with negative Coombs test(10%)and eye K-F ring(10%)were low.2.Using FERENCI score can make a clear diagnosis of WD for children with significantly elevated liver enzymes combined with ceruloplasmin,24-hour urine copper,corneal K-F ring,ATP7 B genetic testing after exclude infectious hepatitis,immune hepatitis,drug-induced hepatitis and other related diseases.3.This article found that the ATP7 B gene hotspot mutation sites in WD children with abnormal liver function as the first episode were c.2333G>T(p.R778L),accounting for 25% and c.3316G>A(p.V1106I),accounting for15%.4.Oral Zinc and low-dose penicillamine were effective in the treatment of WD children with liver dysfunction as the first episode. |
