Objective To report the clinical features and treatment of a child with Dubin-Johnson syndrome,and to review the relevant literature for the diagnosis and treatment of this disease.Methods The clinical manifestations and genes of a case of Dubin-Johnson syndrome caused by ABCC2 gene variant diagnosed and treated in Qingdao Municipal Hospital were retrospectively analyzed.Results The female patient,who was 4 years and 7 months old,had been experiencing stomach pain for two weeks and had been vomiting for four days.Gallbladder stones and choledocholithiasis with abnormal hepatic function were discovered during the auxiliary examination,and genetic testing identified two mutation loci in the ABCC2 gene,c.2366C＞T(p.S789F)and c.3499G＞A(p.V1167I).The latter has not been mentioned in any published works.After an inef-fective attempt to treat the infection with cefoperazone sodium and sulbactam sodium,an ERCP was carried out following multidisciplinary consultation,and the child's abdominal pain,vomiting,and liver function all subsided.Conclusion ABCC2 is the causative gene for Dubin-Johnson syndrome,and genetic testing is an important basis for the diagnosis of this disease.The disease generally has a good prognosis and usually requires no specific treatment.For this child,ERCP is more effective,as opposed to conservative treatment.
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