Clinical Analysis And Gene Detection Of 10 HLD Children Patients

Objective To summarize and analyze the HLD children patients,And understand th e characteristics and treatment of gene mutation in HLD patients,Further enrich the clinical data?diagnosis rateof HLD patients and its treatment methods in order to guide clinicians.Methods Retrospective analysis of newly treated HLD patients in our hospital in r ecently 3 years,including clinical manifestations,laboratory findings,patients and their parents related gene detection,treatment and prognosis.DNA gene sequencing was used to detect ATP7 B gene in patients and their parents and gene diagnosis was performed.(21 exon code area;Junction of Introns and Exon.)Results There are 10 patients in this study,including 4 males and 6 females,no positive family history.Analyze of the first symptom showed that 5 cases appeard abnormal liver function,symptoms of the nervous system in 2 cases,2 cases of bl ood system diseases,one patient appeard abnormal liver function with neurological symptoms.10 patients with 24 h urinary copper indicators were higher than normal,ceruloplasmin levels were lower than 0.08g/L,7 cases were positive toward to KF ring test of 10 HLD patients,the liver,spleen and kidney of 10 patients with H LD were examined by ultrasonography found that 6 patients with hepatomegaly,1patient had cirrhosis,and 5 patients had splenomegaly;one patient developed renal hamartoma,urine analysis showed that 2 patients with proteinuria,2 patients had hematuria,1 patient had urinary occult symptoms.10 cases of brain MRI examinatio n found that 1 case of brain abnormalities in the brain,the performance comsist o f bilateral lentiform nucleus,caudate nucleus,pony multiple abnormal signal.In this study,the coding region of the ATP7 B gene exon of 10 patients and t heir parents was tested by DNA generation,10 patients with HLD were found to have mutations in the ATP7 B gene,a total of 9 mutations were found,Including 1 s plice mutations was identified(P.),1 nonsense mutation was identified(p.Arg1319*)and 7 missense mutations were identified(p.Arg778 Leu,p.Ala874,p.Pro992 Leu,p.Asn1270 Ser,p.Pro840 Leu,p.Thr935 Met,p.Asp1047Val).The mutations which detect ed were heterozygous mutations in this study,the mutation of p.Arg778 Leu with ex on 8 were found in 5 patients,The p.Pro992 Leu mutation in exon 13 were found in 3 patients,the mutation frequencies were 40% and 20%,respectively.Accord ing to this study,The high frequency region of ATP7 B gene mutations is codon 778th(R778L)with exon 8,followed by exon thirteenth codon 992nd(P992L).According to the different situation of 10 patients,invalids and Liver protecti on were treated using Sodium Dimercaptosulphonate?Zinc sulfate and penicillamine,10 patients were getting control of the disease combined with liver function tests,24-hour urine ketone and other follow-up indicators.Conclusion 1.Consider the possibility of this disease when mang symptoms appear ed,such as unexplained liver disease and(or)nervous system abnormalities,hepatos plenomegaly,jaundice,anemia,kidney damage,musculoskeletal damage rash.Clinica l diagnosis was estimated combined with ceruloplasmin,cornea K-F ring,24 hours urinary copper,and clinical manifestations and combined liver and brain imaging.2.The high frequency of patients with HLD mutation in ATP7 B gene is 778 th codon(R778L),followed by 992 nd codon of exon 13th(P992L).3.The study is effective in the treatment of HLD patients.