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MtDNA 3243 A>G mutation and recurrent cholangitis after Kasai procedure in biliary atresia: a case report
Jie Sun1, Yanan Zhang1, Dayan Sun1
1Department of Neonatal Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Background:
Cholangitis following the Kasai procedure contributes to a poor prognosis in biliary atresia (BA). We report a case of a pediatric patient with BA who developed recurrent cholangitis after undergoing a Kasai procedure and was subsequently found to carry the mitochondrial DNA (mtDNA) 3243 A>G mutation.
Case Description:
This case involves a 7-month-old female infant who, at 2 months of age, exhibited symptoms including jaundice, stool discoloration, and dark urine, prompting a diagnosis of hyperbilirubinemia. Hepatobiliary dynamic imaging suggested BA, a diagnosis confirmed by abdominal ultrasound and laparoscopic exploration at our hospital. She underwent a Kasai procedure and was discharged on day 19. However, recurrent, treatment-resistant cholangitis subsequently led to her readmission. Given the patient's complex clinical course, genetic testing, conducted with informed consent, revealed a pathogenic mtDNA variant at position 3243 (A>G). Due to the severity of her condition, she underwent liver transplantation 5 months after the Kasai procedure.
Conclusions:
This article reports a rare case of the mtDNA 3243 A>G mutation presenting as recurrent cholangitis, suggesting that mitochondrial dysfunction may consistently induce inflammation. This case highlights the importance of recognizing mitochondrial mutations in BA due to their critical impact on the patient's prognosis. A comprehensive genetic evaluation may benefit patients with BA accompanied by recurrent cholangitis.
Insights
Recurrent cholangitis in biliary atresia (BA) can be linked to the mitochondrial DNA (mtDNA) 3243 A>G mutation. Early genetic evaluation is crucial for managing BA patients with persistent cholangitis.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Mitochondrial Diseases
Background:
- Biliary atresia (BA) is a severe neonatal liver disease.
- Cholangitis post-Kasai procedure is a known complication impacting BA prognosis.
- Mitochondrial dysfunction is increasingly recognized in complex pediatric liver diseases.
Observation:
- A 7-month-old infant with BA developed recurrent, treatment-resistant cholangitis after a Kasai procedure.
- Genetic testing revealed a pathogenic mitochondrial DNA (mtDNA) 3243 A>G mutation in the patient.
- The patient ultimately required liver transplantation due to disease severity.
Findings:
- The study identifies a rare association between the mtDNA 3243 A>G mutation and recurrent cholangitis in BA.
- Mitochondrial dysfunction may be a consistent trigger for inflammation in BA.
- The presence of this mutation significantly impacts patient prognosis.
Implications:
- Highlights the importance of considering mitochondrial mutations in BA patients with refractory cholangitis.
- Suggests that comprehensive genetic screening may improve diagnostic yield and treatment strategies for BA.
- Emphasizes the role of genetic evaluation in predicting outcomes for biliary atresia.
