Key Insights on Pediatric Biliary Atresia and Its Diagnosis

Overview of Pediatric Biliary Atresia and Its Implications

Biliary atresia (BA) is a rare but severe liver disease that occurs in infants, characterized by the absence or obstruction of bile ducts, leading to cholestasis and liver damage. It is recognized as the leading cause of liver transplantation in children, with an incidence that varies globally, being more prevalent in Asia (1). The pathogenesis of biliary atresia is multifactorial, with potential triggers including genetic predispositions, environmental factors, and immunological responses (2).

The clinical presentation of BA typically includes jaundice, pale stools, and dark urine, manifesting in the first few weeks of life. Most infants appear healthy at birth, which complicates early diagnosis (3). The condition can lead to severe liver damage if not diagnosed and treated promptly. The standard surgical intervention, the Kasai portoenterostomy, aims to restore bile flow and improve liver function, but its success is highly time-dependent, with better outcomes when performed before the infant is 60 days old (4).

Importance of Early Diagnosis in Biliary Atresia

Early diagnosis of biliary atresia is critical for improving patient outcomes. The timing of the Kasai procedure is closely linked to survival rates and the ability to maintain the native liver (5). Despite advancements in imaging techniques and laboratory tests, diagnosing BA remains a challenge due to its subtle initial presentation. The absence of effective screening methods contributes to delays in diagnosis, with many infants undergoing surgery at an age when the prognosis is poorer (6).

Recent studies have highlighted the importance of incorporating clinical features, laboratory findings, and imaging results to enhance early detection (7). For instance, elevated levels of gamma-glutamyl transferase (GGT) and total bilirubin are common indicators that prompt further investigation (8). Understanding these factors can lead to timely interventions, significantly impacting the long-term outcomes for affected children.

Clinical Presentation and Diagnostic Criteria for Biliary Atresia

The clinical presentation of biliary atresia typically includes:

• Jaundice: Often the first noticeable sign, occurring within the first few weeks of life.
• Pale stools: Resulting from the lack of bile reaching the intestines.
• Dark urine: Due to the excretion of excess bilirubin.
• Failure to thrive: Infants may not gain weight adequately as a result of jaundice and poor bile flow.

Diagnostic criteria for biliary atresia encompass a combination of clinical assessment, laboratory findings, and imaging studies. Initially, elevated conjugated bilirubin and GGT levels are evaluated, alongside abdominal ultrasounds that may reveal gallbladder abnormalities and signs indicative of cholestasis (9). However, the definitive diagnosis often requires surgical exploration and intraoperative cholangiography to visualize the biliary tree (10).

Table 1: Clinical Indicators of Biliary Atresia

The Role of Gamma-Glutamyl Transferase in Prognosis

Gamma-glutamyl transferase (GGT) plays a crucial role in the diagnosis and prognosis of biliary atresia. It is an enzyme that indicates biliary obstruction and liver dysfunction. Studies have shown that preoperative GGT levels correlate with surgical outcomes in biliary atresia patients; those with elevated GGT levels tend to have more severe liver disease and poorer prognoses (11).

A recent retrospective study analyzed 74 patients who underwent the Kasai procedure, categorizing them based on preoperative GGT levels. Patients with GGT levels exceeding 300 IU/L demonstrated significantly lower survival rates and higher complication rates compared to those with lower levels (12). This indicates that GGT is not only a diagnostic marker but also a prognostic factor that can guide clinical decision-making.

Recent Advances in AI for Detecting Biliary Atresia

Artificial intelligence (AI) is emerging as a promising tool in the early detection of biliary atresia. Recent studies have demonstrated the ability of AI algorithms to analyze multimodal data, including ultrasound images and clinical parameters, to improve diagnostic accuracy (13). A significant advancement is the development of a deep learning model that achieved an area under the curve (AUC) of 0.9870 in identifying BA, outperforming experienced radiologists (14).

The model’s integration of clinical data and imaging findings allows for a more comprehensive assessment, enhancing the diagnostic process. This AI-based approach not only aids in early detection but also helps to streamline the management of suspected cases, thereby reducing the time to intervention (15).

Table 2: AI Model Performance Metrics

Treatment Strategies and Long-Term Outcomes for Patients

The primary treatment for biliary atresia is the Kasai portoenterostomy, which involves connecting the small intestine to the liver to allow bile drainage. This surgical intervention is most effective when performed early, ideally before the infant reaches 60 days of age (16). Successful surgery can lead to the maintenance of the native liver and improved quality of life for the child.

Long-term outcomes vary significantly, with factors such as age at surgery, preoperative liver function, and postoperative care playing critical roles. Approximately 75% of patients who undergo the Kasai procedure survive with their native liver for at least two years, but many will eventually require liver transplantation due to progressive liver damage (17).

Summary of Treatment Strategies

FAQ

What is biliary atresia?
Biliary atresia is a rare congenital condition where the bile ducts are blocked or absent, leading to liver damage.

How is biliary atresia diagnosed?
Diagnosis involves clinical assessment for jaundice, elevated liver enzymes, imaging studies like ultrasound, and sometimes surgical exploration.

What are the treatment options for biliary atresia?
The primary treatment is the Kasai portoenterostomy. In cases of severe liver damage, a liver transplant may be required.

What role does gamma-glutamyl transferase (GGT) play in biliary atresia?
GGT is used as a diagnostic marker; elevated levels can indicate severe liver disease and predict outcomes after surgery.

How can AI improve the diagnosis of biliary atresia?
AI can analyze multimodal data, improving diagnostic accuracy and enabling earlier detection of biliary atresi

References

1. Hartley, J. L., Davenport, M., & Kelly, D. A. (2009). Biliary atresia. Lancet, 374, 1704-1713 09)60946-6

2. Govindarajan, K. K. (2016). Biliary atresia: Where do we stand now? World J Hepatol, 8, 1593-1601. https://doi.org/10.4254/wjh.v8.i36.1593

3. Chung, P. H. Y., Zheng, S., & Tam, P. K. H. (2020). Biliary atresia: East versus west. Semin Pediatr Surg, 29, 150950. https://doi.org/10.1016/j.sempedsurg.2020.150950

4. McKiernan, P. J., Baker, A. J., & Kelly, D. A. (2000). The frequency and outcome of biliary atresia in the UK and Ireland. Lancet, 355, 25-29 99)03492-3

5. Cavallo, L., Kovar, E. M., & Aqul, A. (2022). The Epidemiology of Biliary Atresia: Exploring the Role of Developmental Factors on Birth Prevalence. J Pediatr Surg, 57, 1141-1153. https://doi.org/10.1016/j.jpedsurg.2022.03.001

6. Tiao, M. M., Tsai, S. S., Kuo, H. W., Chen, C. L., & Yang, C. Y. (2008). Epidemiological features of biliary atresia in Taiwan, a national study 1996-2003. J Gastroenterol Hepatol, 23, 62-66

7. Sandberg, J. K., Sun, Y., Ju, Z., Liu, S., Jiang, J., & Koci, M. (2021). Ultrasound shear wave elastography: does it add value to gray-scale ultrasound imaging in differentiating biliary atresia from other causes of neonatal jaundice? Pediatr Radiol, 51, 1654-1666. https://doi.org/10.1007/s00247-021-05024-9

8. Humphrey, T. M., & Stringer, M. D. (2007). Biliary atresia: US diagnosis. Radiology, 244, 845-851

9. Zhou, W., Yang, Y., Yu, C., Liu, J., Duan, X., & Weng, Z. (2021). Ensembled deep learning model outperforms human experts in diagnosing biliary atresia from sonographic gallbladder images. Nat Commun, 12, 1259. https://doi.org/10.1038/s41467-021-21466-z

10. Ye, C., & Gao, W. (2025). Predictors of outcome among children with biliary atresia: a single centre trial. PeerJ. https://doi.org/10.7717/peerj.19001

11. Kanda, T., & Sasaki-Tanaka, R. (2025). Pruritus in Chronic Cholestatic Liver Diseases, Especially in Primary Biliary Cholangitis: A Narrative Review. Int J Mol Sci. https://doi.org/10.3390/ijms26031252

12. Ma, Y., Yang, Y., Du, Y., Jin, L., Liang, B., Zhang, Y., Wang, Y., Liu, L., Zhang, Z., Jin, Z., Qiu, Z., Ye, M., & Wang, Z. (2025). Development of an artificial intelligence-based multimodal diagnostic system for early detection of biliary atresia. BMC Med. https://doi.org/10.1186/s12916-025-03962-x