A Study Of Slc25a13Gene Mutation Of Cholestasis In Idiopathic Infantile Hepatitis From Guangxi

Aim:To detect SLC25A13gene of cholestasis in idiopathic infantile hepatitis understand their mutation in Guangxi, and analyse suspected NICCD the clinical manifestation, laboratory examination and prognosis.Methods:A case-control study was performed which enrolled104idiopathic infant hepatitis with cholestasis patients who hospitalized on the First Affiliated Hospital of Guangxi Medical University from2011-9to2013-8, And there were50infants with normal liver function as control group. All of the subject are from Guangxi. Cases screen firstly blood tandem mass spectrometry (MS), and suspected Citrin defect disease analysis directly SLC25A13gene all exon DNA sequence. To negative MS cases and control group using polymerase chain reaction single-strand conformation polymorphism (PCR--SSCP) combined DNA sequencing screening SLC25A13gene18exon, understand whether there are the presence of SLC25A13gene mutations. And to14cases of suspected NICCD analysis clinical manifestation, laboratory examination and to follow-up in order to understand the prognosis.Results:To14cases of suspected Citrin deficiency by MS screening in the case group, DNA sequencing found2case with homozygous mutation 851del4/851de14and1cases heterozygous mutations851de14.The rest normal MS cases screened by PCR-SSCP and found1case of exon15abnormal banding, gene sequencing P502L found that new SLC25A13gene mutation. The control group did not find relevant mutations. Suspected NICCD14cases presented with jaundice, varying degrees of liver and spleen enlargement, abnormal liver function and blood coagulation dysfunction, MS analysis found that children with blood citrulline, methionine and tyrosine increases, Follow-up found that4of8cases returned to normal liver function (3of4cases exist851de14mutation); Another1case with851de14mutation lost after treatment to improve;1case of poor prognosis,3cases of death,5cases in different degree better early hospitalization, lost to follow-up after out of the hospital.Conclusions:SLC25A13gene exist mutations in the idiopathic infantile intrahepatic cholestasis, SLC25A13gene mutations may be one of the leading causes. Screening MS has high diagnostic value to suspected Citrin deficiency in idiopathic infantile intrahepatic cholestasis, the final diagnosis still relies on genetic diagnosis, early aggressive treatment is important for prognosis.