BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown etiology.Its outcome is often liver transplantation or death.Clarifying the etiology of CBA is of great significanc...BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown etiology.Its outcome is often liver transplantation or death.Clarifying the etiology of CBA is of great significance for prognosis,treatment,and genetic counseling.CASE SUMMARY A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of"yellow skin for more than 6 mo".Soon after birth,the patient developed jaundice,which then progressively intensified.A"laparoscopic exploration"indicated"biliary atresia".After coming to our hospital,genetic testing suggested a GPC1mutation[loss 1(exons 6-7)].The patient recovered and was discharged after living donor liver transplantation.After discharge,the patient was followed up.The condition was controlled by oral drugs,and the patient’s condition was stable.CONCLUSION CBA is a complex disease with a complex etiology.Clarifying the etiology is of great clinical importance for treatment and prognosis.This case reports CBA caused by a GPC1 mutation,which enriches the genetic etiology of biliary atresia.However,its specific mechanism needs to be confirmed by further research.展开更多
文摘BACKGROUND Congenital biliary atresia(CBA)is a serious hepatobiliary disease in children with unknown etiology.Its outcome is often liver transplantation or death.Clarifying the etiology of CBA is of great significance for prognosis,treatment,and genetic counseling.CASE SUMMARY A male Chinese infant at an age of 6 mo and 24 d was hospitalized because of"yellow skin for more than 6 mo".Soon after birth,the patient developed jaundice,which then progressively intensified.A"laparoscopic exploration"indicated"biliary atresia".After coming to our hospital,genetic testing suggested a GPC1mutation[loss 1(exons 6-7)].The patient recovered and was discharged after living donor liver transplantation.After discharge,the patient was followed up.The condition was controlled by oral drugs,and the patient’s condition was stable.CONCLUSION CBA is a complex disease with a complex etiology.Clarifying the etiology is of great clinical importance for treatment and prognosis.This case reports CBA caused by a GPC1 mutation,which enriches the genetic etiology of biliary atresia.However,its specific mechanism needs to be confirmed by further research.
