Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 16, 2023; 11(32): 7865-7871
Published online Nov 16, 2023. doi: 10.12998/wjcc.v11.i32.7865
Type II Abernethy malformation with cystic fibrosis in a 12-year-old girl: A case report
Li-Jie Zhang, Xing-Yu Liu, Teng-Fei Chen, Zhong-Ya Xu, Han-Jun Yin
Li-Jie Zhang, Xuzhou Medical University, Xuzhou 221000, Jiangsu Province, China
Xing-Yu Liu, Department of Pediatric Surgery, The First Affiliated Hospital of Bengbu Medical College, Bengbu 233000, Anhui Province, China
Teng-Fei Chen, Department of General Surgery, Nanjing Drum Tower Hospital Group Suqian Hospital, Suqian 223800, Jiangsu Province, China
Zhong-Ya Xu, Department of Pediatric Surgery, Children's Hospital of Nanjing Medical University, Nanjing 210000, China
Han-Jun Yin, Department of Pediatrics, Nanjing Drum Tower Hospital Group Suqian Hospital, Suqian 223800, Jiangsu Province, China
Author contributions: Yin HQ and Xu ZY designed the work and revised the manuscript; Zhang LJ was responsible for writing the original draft; Liu XY and Che TF collected and analyzed the patient data; All authors approved the final version to be submitted.
Informed consent statement: Written informed consent was obtained from the child's legal guardian for this study.
Conflict-of-interest statement: All the authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Han-Jun Yin, MD, Attending Doctor, Department of Pediatrics, Nanjing Drum Tower Hospital Group Suqian Hospital, No. 138 South Huanghe Road, Suqian 223800, Jiangsu Province, China. jssqyhj@163.com
Received: August 1, 2023
Peer-review started: August 1, 2023
First decision: August 30, 2023
Revised: October 21, 2023
Accepted: November 2, 2023
Article in press: November 2, 2023
Published online: November 16, 2023
Processing time: 106 Days and 11.8 Hours
Abstract
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.

Keywords: Abernethy malformation; Cystic fibrosis; CFTR gene; Case report

Core Tip: Abernethy malformation, also referred to as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from anomalous development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, which is rare in Asian populations. We present an Asian child with type II Abernethy malformation coexisting with CF and discuss the diagnosis and treatment of Abernethy malformation and CF.