Sun Jie, Zhang Yanan, Sun Dayan, Huang Jinshi
Department of Neonatal Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Transl Pediatr. 2025 Mar 31;14(3):522-528. doi: 10.21037/tp-2024-592. Epub 2025 Mar 26.
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.
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.
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.
肝门空肠吻合术后胆管炎会导致胆道闭锁（BA）患者预后不良。我们报告一例患有BA的儿科患者，该患者在接受肝门空肠吻合术后发生复发性胆管炎，随后被发现携带线粒体DNA（mtDNA）3243 A>G突变。
该病例为一名7个月大的女婴，2个月大时出现黄疸、大便颜色改变和尿色加深等症状，提示诊断为高胆红素血症。肝胆动态显像提示为BA，我院腹部超声和腹腔镜探查确诊。她接受了肝门空肠吻合术，术后第19天出院。然而，复发性、难治性胆管炎随后导致她再次入院。鉴于患者复杂的临床病程，在获得知情同意后进行的基因检测显示在3243位点存在致病性mtDNA变异（A>G）。由于病情严重，她在肝门空肠吻合术后5个月接受了肝移植。
本文报告了一例罕见的mtDNA 3243 A>G突变表现为复发性胆管炎的病例，提示线粒体功能障碍可能持续诱发炎症。该病例突出了识别BA中线粒体突变的重要性，因为它们对患者预后有至关重要的影响。全面的基因评估可能使伴有复发性胆管炎的BA患者受益。
