12. Bile Duct Atresia. Literature Review

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https://doi.org/10.35805/BSK2025III0012

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Abstract

Biliary atresia is a rare but severe congenital disease characterized by progressive obstruction of the extrahepatic and intrahepatic bile ducts and leading to cholestasis, fibrosis and cirrhosis of the liver in newborns. Epidemiological data demonstrate the variability of prevalence in different regions, which indicates the possible influence of genetic and environmental factors. The pathogenesis of the disease remains the subject of active study and includes the interaction of immune, viral and molecular mechanisms leading to damage to the bile ducts. Clinical diagnosis is difficult due to non-specific symptoms such as jaundice, light feces, and dark urine, which makes early detection critical to improve outcomes. Surgical intervention, known as Kasai surgery, remains the main treatment method and is aimed at restoring bile outflow, however, a significant proportion of patients eventually require liver transplantation. Current research focuses on the search for biomarkers for early diagnosis, the study of molecular targets, and the development of innovative therapeutic approaches, including immunomodulation and cellular technologies. The literature data emphasize the need for an integrated approach to disease management and further scientific research to improve clinical outcomes.

Keywords

Biliary atresia, diagnosis, screening, cytomegalovirus, portoenterostomy, Kasai, liver, transplantation, immunology, immunosuppression

References

  1. Meng Y, Yang Q, Liu S, Ke X, Zhan J. Genetic background and biliary atresia. World J Pediatr Surg. 2025;8(3):e001023. doi:10.1136/wjps-2025-001023
  2. Cazares J, et al. Advances in the surgical technique of Kasai portoenterostomy. Semin Pediatr Surg. Dec 2024;33(6):151481. doi:10.1016/j.sempedsurg.2025.151481
  3. Hellen DJ, Karpen SJ. Erratum to: Genetic Contributions to Biliary Atresia: Cholangiopathy. Liver Dis. 43(3):e2. doi:10.1055/s-0043-1776036
  4. Sabzehei MK, Waisis S, Shokouhi M, Tapak L. Single-surface Intensive Phototherapy or Double-Surface Intensive Phototherapy in Neonatal Non-Hemolytic Hyperbilirubinemia: Effectiveness and Complications. Iran Med J. 2021;3:19. doi:10.47176/mjiri.35.192
  5. Lu YG, Pan ZY, Zhang S, et al. Living Donor Liver Transplantation in Children: Perioperative Risk Factors and a Nomogram for Prediction of Survival. Transplantation. Aug 2020;104(8):1619-1626. doi:10.1097/TP.0000000000003056
  6. Ziogas IA, Ye F, Zhao Z, et al. Mortality in Children with Biliary Atresia Await Liver Transplantation. J Ped. 28:17-18. doi:10.1016/j.jpeds.2020.09.005
  7. Breeclj J, Orel R. Non-Alcoholic Fatty Liver Disease in Children. Medicina (Kaunas). Jul 16 2021;57(7). doi:10.3390/medicina57070719
  8. Jayasekera D, Hartmann P. Noninvasive biomarkers in pediatric non-alcoholic fatty liver disease. World J Hepatol. May 27 2023;15(5):609-640. doi:10.4254/wjh.v15.i5.609
  9. Degtyareva A. Longterm Effects of Kasai Portoenterostomy for Biliary Atresia Treatment in Russia. Diagnostics (Basel). Sep 11 2020;10(9). doi:10.3390/diagnostics10090686
  10. Sundaram SS, Mack CL, Feldman AG, Sokol RJ. Biliary atresia: Indications and timing of liver transplantation and optimization of pretransplant care. Liver Transpl. Jan 2017;23(1):96-109. doi:10.1002/lt.24640
  11. Uto K, Nio M. A multicenter study of primary liver transplantation for biliary atresia in Japan. Pediatr Surg Int. Nov 2019;35(11):1223-1229. doi:10.1007/s00383-019-04553-7
  12. Araki S, Shirahata A. Vitamin K Deficiency Bleeding in Infancy. Nutrients. Mar 16 2020;12(3). doi:10.3390/nu12030780
  13. Wang G, Chen H, Xie X, et al. 2D shear wave elastography combined with age and serum biomarkers prior to kasai surgery predicts native liver survival of biliary atresia infants. J Intern Med. Nov 2020;288(5):570-580. doi:10.1111/joim.13097
  14. Huang CY, Chang MH, Chen HL, Ni YH, Hsu HY, Wu JF. Bilirubin level 1 week after hepatoportoenterostomy predicts native liver survival in biliary atresia. Pediatr Res. Mar 2020;87(4):730-734. doi:10.1038/s41390-019-0610-6
  15. Durkin N, Deheragoda M, Davenport M. Prematurity and biliary atresia: a 30-year observational study. Pediatr Surg Int. Dec 2017;33(12):1355-1361. doi:10.1007/s00383-017-4193-1
  16. Chung PHY, Harumatsu T, Nakagawa Y, et al. Cholestasis after Kasai operation predicts portal hypertension in native liver survivors of biliary atresia: a multicenter study. Pediatr Surg Int. Jul 17 2024;40(1):196. doi:10.1007/s00383-024-05775-0
  17. Ihn K, Na Y, Ho IG, Lee D, Koh H, Han SJ. A periodic comparison of the survival and prognostic factors of biliary atresia after Kasai portoenterostomy: a single-center study in Korea. Pediatr Surg Int. Mar 2019;35(3):285-292. doi:10.1007/s00383-018-04434-5
  18. Na Z, Yang H, Chen L, et al. Research on biliary atresia and epigenetic factors from the perspective of transcriptomics: identification of key genes and experimental validation. Front Pediatr. 2025;13:1624671. doi:10.3389/fped.2025.1624671
  19. Lewindon PJ, Puertolas-Lopez MV, Ramm LE, et al. Accuracy of Transient Elastography Data Combined With APRI in Detection and Staging of Liver Disease in Pediatric Patients With Cystic Fibrosis. Clin Gastroenterol Hepatol. Nov 2019;17(12):2561-2569.e5. doi:10.1016/j.cgh.2019.03.015
  20. Davenport M, Makin E, Ong EG, Sharif K, Dawrant M, Alizai N. The Outcome of a Centralization Program in Biliary Atresia: Twenty Years and Beyond. Ann Surg. Apr 1 2025;281(4):608-614. doi:10.1097/SLA.0000000000006273
  21. Lin JS, Chen SC, Lu CL, Lee HC, Yeung CY, Chan WT. Reduction of the ages at diagnosis and operation of biliary atresia in Taiwan: A 15-year population-based cohort study. World J Gastroenterol. Dec 14 2015;21(46):13080-6. doi:10.3748/wjg.v21.i46.13080
  22. Han S, Jeon TY, Hwang SM, et al. Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresia. Br J Radiol. Aug 2017;90(1077):20170406. doi:10.1259/bjr.20170406
  23. Zhou W, Zhou L. Ultrasound for the Diagnosis of Biliary Atresia: From Conventional Ultrasound to Artificial Intelligence. Diagnostics (Basel). Dec 27 2021;12(1). doi:10.3390/diagnostics12010051
  24. Hwang SM, Jeon TY, Yoo SY, Choe YH, Lee SK, Kim JH. Early US findings of biliary atresia in infants younger than 30 days. Eur Radiol. Apr 2018;28(4):1771-1777. doi:10.1007/s00330-017-5092-5
  25. Tam PKH, Chung PHY, St Peter SD, et al. Advances in paediatric gastroenterology. Lancet. Sep 9 2017;390(10099):1072-1082. doi:10.1016/S0140-6736(17)32284-5
  26. Ramachandran P, Safwan M, Tamizhvanan V, et al. Age Is Not a Criterion in Patient Selection for Kasai Portoenterostomy. J Indian Assoc Pediatr Surg. Oct-Dec 2019;24(4):271-274. doi:10.4103/jiaps.JIAPS_182_18
  27. Averbukh LD, Wu GY. Evidence for Viral Induction of Biliary Atresia: A Review. J Clin Transl Hepatol. Dec 28 2018;6(4):410-419. doi:10.14218/JCTH.2018.00046
  28. Zani A, Quaglia A, Hadzic N, Zuckerman M, Davenport M. Cytomegalovirus-associated biliary atresia: An aetiological and prognostic subgroup. J Pediatr Surg. Oct 2015;50(10):1739-45. doi:10.1016/j.jpedsurg.2015.03.001
  29. Cui MM, Gong YM, Pan WH, et al. Contribution of ADD3 and the HLA Genes to Biliary Atresia Risk in Chinese. Int J Mol Sci. Sep 29 2023;24(19). doi:10.3390/ijms241914719
  30. Mohamed SOO, Elhassan ABE, Elkhidir IHE, et al. Detection of Cytomegalovirus Infection in Infants with Biliary Atresia: A Meta-analysis. Avicenna J Med. Jan 2022;12(1):3-9. doi:10.1055/s-0041-1739236
  31. Garcia M, Thirouard L, Sedes L, et al. Nuclear Receptor Metabolism of Bile Acids and Xenobiotics: A Coordinated Detoxification System with Impact on Health and Diseases. Int J Mol Sci. Nov 17 2018;19(11). doi:10.3390/ijms19113630
  32. Gou Q, Chen Y, Yu C, et al. Biliary atresia in twins population: a retrospective multicenter study in mainland China. Pediatr Surg Int. Jun 2020;36(6):711-718. doi:10.1007/s00383-020-04662-8
  33. Davenport M. Updates in Biliary Atresia: Aetiology, Diagnosis and Surgery. Children (Basel). Jan 16 2025;12(1). doi:10.3390/children12010095
  34. Li TF, Ke XY, Zhang YR, Zhan JH. The correlation between rs2501577 gene polymorphism and biliary atresia: a systematic review and meta-analysis. Pediatr Surg Int. May 29 2023;39(1):206. doi:10.1007/s00383-023-05491-1
  35. Fanna M, Masson G, Capito C, et al. Management of Biliary Atresia in France 1986 to 2015: Long-term Results. J Pediatr Gastroenterol Nutr. Oct 2019;69(4):416-424. doi:10.1097/MPG.0000000000002446
  36. Aboughalia H, Kobeisy A, Shalaby-Rana E, Shet NS. Pediatric hepatobiliary scintigraphy: biliary atresia and beyond. Pediatr Radiol. May 2025;55(6):1054-1070. doi:10.1007/s00247-025-06212-7
  37. He F, Li G, Zhang Z, et al. Transfer learning method for prenatal ultrasound diagnosis of biliary atresia. NPJ Digit Med. Feb 28 2025;8(1):131. doi:10.1038/s41746-025-01525-1
  38. Shen O, Sela HY, Nagar H, et al. Prenatal diagnosis of biliary atresia: A case series. Early Hum Dev. Aug 2017;111:16-19. doi:10.1016/j.earlhumdev.2017.05.005
  39. Shen Q, Tan SS, Wang Z, et al. Combination of gamma-glutamyl transferase and liver stiffness measurement for biliary atresia screening at different ages: a retrospective analysis of 282 infants. BMC Pediatr. Jun 4 2020;20(1):276. doi:10.1186/s12887-020-02172-z
  40. Lyu H, Ye Y, Wang B. FIB-4 and APRI scores for progressive liver fibrosis diagnosis in children with biliary atresia. Front Pediatr. 2023;11:1286400. doi:10.3389/fped.2023.1286400
  41. Zhou LY, Wang W, Shan QY, et al. Optimizing the US Diagnosis of Biliary Atresia with a Modified Triangular Cord Thickness and Gallbladder Classification. Radiology. Oct 2015;277(1):181-91. doi:10.1148/radiol.2015142309
  42. Sun R, Xu X, Zheng Q, Zhan J. Therapeutic Endoscopic Retrograde Cholangiopancreatography for Pediatric Hepato-Pancreato-Biliary Diseases: A Systematic Review and Meta-Analysis. Front Pediatr. 2022;10:915085. doi:10.3389/fped.2022.915085
  43. Zheng J, Ye Y, Wang B, Zhang L. Biliary atresia screening in Shenzhen: implementation and achievements. Arch Dis Child. Aug 2020;105(8):720-723. doi:10.1136/archdischild-2019-317787
  44. Borgeat M, Korff S, Wildhaber BE. Newborn biliary atresia screening with the stool colour card: a questionnaire survey of parents. BMJ Paediatr Open. 2018;2(1):e000269. doi:10.1136/bmjpo-2018-000269
  45. Harpavat S, Garcia-Prats JA, Anaya C, et al. Diagnostic Yield of Newborn Screening for Biliary Atresia Using Direct or Conjugated Bilirubin Measurements. JAMA. Mar 24 2020;323(12):1141-1150. doi:10.1001/jama.2020.0837
  46. Brahee DD, Lampl BS. Neonatal diagnosis of biliary atresia: a practical review and update. Pediatr Radiol. Apr 2022;52(4):685-692. doi:10.1007/s00247-021-05148-y
  47. Dezsofi A, Baumann U, Dhawan A, et al. Liver biopsy in children: position paper of the ESPGHAN Hepatology Committee. J Pediatr Gastroenterol Nutr. Mar 2015;60(3):408-20. doi:10.1097/MPG.0000000000000632
  48. Doshi RK, Ruben M, Drezner K, et al. Knowledge, Attitudes, and Behaviors Related to Hepatitis C Screening and Treatment among Health Care Providers in Washington, DC. J Community Health. Aug 2020;45(4):785-794. doi:10.1007/s10900-020-00794-z
  49. Dietrich CF, Bamber J, Berzigotti A, et al. EFSUMB Guidelines and Recommendations on the Clinical Use of Liver Ultrasound Elastography, Update 2017 (Long Version). Ultraschall Med. Aug 2017;38(4):e48. doi:10.1055/a-0641-0076
  50. Lu X, Jiang J, Shen Z, et al. Effect of Adjuvant Steroid Therapy in Type 3 Biliary Atresia: A Single-Center, Open-Label, Randomized Controlled Trial. Ann Surg. Jun 1 2023;277(6):e1200-e1207. doi:10.1097/SLA.0000000000005407
  51. Yang CZ, Zhou Y, Ke M, et al. Effects of postoperative adjuvant steroid therapy on the outcomes of biliary atresia: A systematic review and updated meta-analysis. Front Pharmacol. 2022;13:956093. doi:10.3389/fphar.2022.956093
  52. Takahashi Y, Matsuura T, Yoshimaru K, Yanagi Y, Hayashida M, Taguchi T. Comparison of biliary atresia with and without intracranial hemorrhage. J Pediatr Surg. Nov 2018;53(11):2245-2249. doi:10.1016/j.jpedsurg.2018.04.031
  53. Cofer ZC, Cui S, EauClaire SF, et al. Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia. PLoS One. 2016;11(3):e0151521. doi:10.1371/journal.pone.0151521
  54. Zhang S, Goswami S, Ma J, et al. CD4(+)T Cell Subset Profiling in Biliary Atresia Reveals ICOS(-) Regulatory T Cells as a Favorable Prognostic Factor. Front Pediatr. 2019;7:279. doi:10.3389/fped.2019.00279
  55. Ye Y, Li Z, Feng Q, et al. Downregulation of microRNA-145 may contribute to liver fibrosis in biliary atresia by targeting ADD3. PLoS One. 2017;12(9):e0180896. doi:10.1371/journal.pone.0180896

Published

2025-09-30

Issue

No. 3 (2025)

Section

Статьи