Clinical and paraclinical characteristics of hepatic lesions in pediatric patients with Caroli syndrome
Main Article Content
Abstract
The study aimed to describe the clinical and paraclinical characteristics of hepatic involvement in pediatric patients with Caroli syndrome at the Vietnam National Children’s Hospital from January 1, 2016 to August 31, 2025. This descriptive study included 40 children with a median age at enrollment of 6.75 years old (IQR: 4.1 - 9.9). Common clinical and laboratory findings included hepatomegaly (90%), splenomegaly (85%), thrombocytopenia (110 G/L). Among the 34 patients followed for more than 12 months, 94.1% exhibited signs of portal hypertension, which progressively worsened with age. Comparison between children under and over 5 years of age showed that older patients had lower white blood cell counts (4.98 vs. 7.06 G/L) and platelet counts (80 vs. 148 G/L), lower AST and ALT levels (38.4 and 19.2 vs. 59.9 and 27 U/L), and higher creatinine levels (49 vs. 37.4 µmol/L). Abdominal ultrasound and MRCP revealed intrahepatic bile duct dilatation in 57.1% and 92.3% of cases, respectively. Liver biopsy demonstrated cystic dilatation of intrahepatic bile ducts and portal fibrosis in all patients. The most common genetic variant was compound heterozygous mutations in the PKHD1 gene (87%).
Article Details
Keywords
Caroli disease, Caroli syndrome, congenital hepatic fibrosis (CHF), autosomal recessive polycystic kidney disease (ARPKD)
References
2. Mahboobipour AA, Ala M, Safdari Lord J, Yaghoobi A. Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease. Orphanet journal of rare diseases. Apr 26 2024;19(1):175. doi:10.1186/s13023-024-03187-w
3. Yao X, Ao W, Fang J, et al. Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review. BMC pregnancy and childbirth. Apr 12 2021;21(1):294. doi:10.1186/s12884-021-03768-8
4. Hasbaoui BE, Rifai Z, Saghir S, et al. Congenital hepatic fibrosis: case report and review of literature. The Pan African medical journal. 2021;38:188. doi:10.11604/pamj.2021.38.188.27941
5. Wang ZX, Li YG, Wang RL, et al. Clinical classification of Caroli’s disease: an analysis of 30 patients. HPB : the official journal of the International Hepato Pancreato Biliary Association. Mar 2015;17(3):278-83. doi:10.1111/hpb.12330
6. Lucius C, Flückiger A, Meier J, et al. Ultrasound of Bile Ducts-An Update on Measurements, Reference Values, and Their Influencing Factors. 2025;15(7):919.
7. Anjum N, Alvi M, Hamdani S, Fatima T. Caroli’s Disease vs Caroli Syndrome: Clinical and Radiological Spectrum, with disease Outcome at a Teaching Hospital in Lahore. Annals of Punjab Medical College. 12/31 2023;17:587-590. doi:10.29054/apmc/2023.1100
8. Shi W, Huang XM, Feng YL, Wang FD, Gao XX, Jiao Y. Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study. BMC gastroenterology. Sep 29 2020;20(1):317. doi:10.1186/s12876-020-01442-5
9. Poddar U, Thapa BR, Vashishta RK, Girish CS, Singh K. Congenital hepatic fibrosis in Indian children. Journal of gastroenterology and hepatology. Dec 1999; 14(12): 1192-6. doi:10.1046/j.1440-1746.1999.02028.x
10. YanFei -C, SiMiao -Y, Miao -T, et al. - Clinical features of Caroli disease: An analysis of 41 cases %J - Journal of Clinical Hepatology. - 2020-10-20 2020;- 36(- 10):- 2261. doi:- 10.3969/j.issn.1001-5256.2020.10.020.
11. Li J, Liu LW, Luo J, et al. Clinicopathological features of Caroli disease/Caroli syndrome: an analysis of 21 cases. Zhonghua yi xue za zhi. Oct 20 2020; 100(38): 3005-3009. doi:10.3760/cma.j.cn112137-20200630-01995.
12. Dell KM, Matheson M, Hartung EA, Warady BA, Furth SL. Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease. The Journal of pediatrics. Apr 2016; 171: 196-201.e1. doi:10.1016/j.jpeds.2015.12.079.
13. Ozdogan E, Arikan C. Liver fibrosis in children: a comprehensive review of mechanisms, diagnosis, and therapy. Clinical and experimental pediatrics. Mar 2023; 66(3): 110-124. doi:10.3345/cep.2022.00367.
14. Burgmaier K, Brinker L, Erger F, et al. Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney international. Sep 2021; 100(3): 650-659. doi:10.1016/j.kint.2021.04.019.
15. Rawat D, Kelly DA, Milford DV, Sharif K, Lloyd C, McKiernan PJ. Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis. Journal of pediatric gastroenterology and nutrition. Aug 2013; 57(2): 161-6. doi:10.1097/MPG.0b013e318291e72b.