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CASE REPORT article

Front. Pediatr.
Sec. Pediatric Surgery
Volume 12 - 2024 | doi: 10.3389/fped.2024.1417649

A Case of Dubin-Johnson Syndrome in a Newborn

Provisionally accepted
Junshan Long Junshan Long Baowei Qiu Baowei Qiu *Qi Dong Qi Dong Jing Zhang Jing Zhang Xiaoxia Su Xiaoxia Su
  • Hainan Women and Children’s Medical Center, Haikou, China

The final, formatted version of the article will be published soon.

    Background Dubin-Johnson Syndrome (DJS) is a rare autosomal recessive genetic disorder, with most cases presenting in adolescence, but rare in newborns. Objective To investigate the clinical characteristics and treatment outcomes of DJS in a newborn. Methods We present the clinical features of a newborn diagnosed with DJS through molecular genetic testing. Results The patient was a male newborn who developed jaundice and scleral icterus on the 6th day of life. Both direct and indirect bilirubin levels were elevated. After treatment with phototherapy, indirect bilirubin levels decreased, but direct bilirubin remained unchanged, and the stool color gradually lightened. At 56 days of age, the patient underwent laparoscopic cholecystostomy, which revealed viscous bile plugs in the bile ducts. Following the surgery, the patient received oral ursodeoxycholic acid, compound glycyrrhizin, and methylprednisolone. Follow-up until one year post-surgery showed a gradual reduction in direct bilirubin levels to the normal range. Molecular genetic testing revealed three heterozygous mutations in the ABCC2 gene on chromosome 10, with one pathogenic variant inherited from the father and two from the mother, confirming the diagnosis of DJS. Conclusion DJS is a benign condition with a favorable prognosis. In newborns, it should be differentiated from other causes of cholestasis, and compared to cholestasis, jaundice in newborns with DJS responds more slowly to treatment.

    Keywords: Dubin Johnson syndrome, ABCC2, Mutation, Newbown, Jaundice

    Received: 15 Apr 2024; Accepted: 08 Jul 2024.

    Copyright: © 2024 Long, Qiu, Dong, Zhang and Su. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Baowei Qiu, Hainan Women and Children’s Medical Center, Haikou, China

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