Type II Abernethy malformation with cystic fibrosis in a 12-year-old girl:A case report  

作　　者：Li-Jie Zhang Xing-Yu Liu Teng-Fei Chen Zhong-Ya Xu Han-Jun Yin 

机构地区：[1]Xuzhou Medical University,Xuzhou 221000,Jiangsu Province,China [2]Department of Pediatric Surgery,The First Affiliated Hospital of Bengbu Medical College,Bengbu 233000,Anhui Province,China [3]Department of General Surgery,Nanjing Drum Tower Hospital Group Suqian Hospital,Suqian 223800,Jiangsu Province,China [4]Department of Pediatric Surgery,Children's Hospital of Nanjing Medical University,Nanjing 210000,China [5]Department of Pediatrics,Nanjing Drum Tower Hospital Group Suqian Hospital,Suqian 223800,Jiangsu Province,China

出　　处：《World Journal of Clinical Cases》2023年第32期7865-7871,共7页世界临床病例杂志

摘　　要：BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous system.Cystic fibrosis(CF)is an autosomal recessive genetic disease caused by mutations in the CFTR gene.It mainly affects the exocrine glands of the respiratory,digestive and reproductive systems.It is considered extremely rare in the Asian population.We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.CASE SUMMARY A 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis,and chest computed tomography(CT)showed bronchiectasis.Whole exome sequencing was performed for the patient,yielding findings that revealed a compound heterozygous variant of the CFTR gene:c.233_c.234insT/p.Trp79fsTer3(maternal origin);c.2909G>A/p.Gly970Asp(paternal origin).CF was diagnosed.The physician’s attention was drawn to the presence of splenomegaly during disease progression.Abdominal enhanced CT revealed splenomegaly,compression of the left kidney,and multiple tortuous dilated vascular shadows were seen at the splenic hilum,which flowed back into the left renal vein and portal vein,suggesting Abernethy malformation type II.Intraoperatively,the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing,and the pathology of liver biopsy showed hypoplastic,dilated or absent portal vein branches,both of which supported the diagnosis of Abernethy malformation type II.This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.CONCLUSION Coexisting Abernethy malformation and CF are rare.Detailed medical history information,abdominal enhanced CT,venography and genetic testing contribute to diagnosis as well as differential diagnosis.

关 键 词：Abernethy malformation Cystic fibrosis CFTR gene Case report 

分 类 号：R734.1[医药卫生—肿瘤]