Introduction
Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease derived from biliary dysgenesis secondary to ductal plate malformation; it often coexists with Caroli’s disease, von Meyenburg complexes, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD). Congenital hepatic fibrosis (CHF) and Caroli syndrome has varied clinical presentations with or without renal involvement.
Aims & Methods
Our study aimed to describe the clinical manifestations and natural history of children with CHF and Caroli with or without renal involvement. Retrospective data from January 2022 to January 2024 was collected and analyzed.
Results
Twenty-three children (Caroli=7, CHF=16) were enrolled male predominance (76%) was noted. Consanguinity was noted in 76% and 23% had affected siblings. Median age at initial presentation was two years and abdominal distension was the most common presentation (47.6%) followed by variceal bleeding (23.8%), cholangitis (14.2%), incidental diagnosis (9.5%) and pancytopenia (4.76%). Median age at presentation and diagnosis was later with variceal bleeding at 5.6 years compared with children with abdominal distension who presented at 18 months respectively (p=0.0001). Renal involvement was present in 76% of the children. Autosomal Recessive Polycystic Kidney Disease (ARPKD) was the most common renal manifestation noted. Of them, 18% had developed Chronic Kidney Disease (CKD). All Caroli cases (100%) had renal involvement. There was no statistical difference in the age of presentation of CHF with or without renal involvement (p=0.5998). Growth faltering was noted in 52% of children. Statistical analysis revealed no significant difference in the likelihood of developing portal hypertension among children with either congenital hepatic fibrosis (CHF) or Caroli disease, regardless of renal involvement. Portal hypertension was seen in 76%. Only one child had variceal bleeding on follow up.
Conclusion
Abdominal distension, organomegaly, variceal bleeding, and cholangitis are frequently observed clinical manifestations in both congenital hepatic fibrosis (CHF) and Caroli disease. Interestingly, while renal involvement is more prevalent in Caroli disease compared to CHF, there doesn't appear to be a direct correlation between renal involvement and the severity of hepatic manifestations or growth faltering in affected children. This underscores the complexity of these conditions and the need for tailored management approaches that address both hepatic and renal complications.
References
1. Srinath, Arvind, and Benjamin L Shneider. “Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.” Journal of pediatric gastroenterology and nutrition vol. 54,5 (2012): 580-7. doi:10.1097/MPG.0b013e31824711b7
2. Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013 Jan;144(1):112-121.e2. doi: 10.1053/j.gastro.2012.09.056. Epub 2012 Oct 3. PMID: 23041322; PMCID: PMC4162098.
