Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience.

Purpose: Congenital hepatic fibrosis (CHF) and/or autosomal recessive polycystic kidney disease (ARPKD) represent rare and complex clinical conditions in childhood. Diagnostic challenges often arise due to heterogeneity in clinical manifestations. Methods: This study included pediatric patients diagnosed with CHF and/or ARPKD who were followed by the Pediatric Gastroenterology and Pediatric Nephrology Departments. Patient records were reviewed retrospectively. Results: A total of 23 patients were included in the study. The median age of the cohort was 12.7±4.8 years, and the median age at diagnosis was 0.6±3.4 years. Thirteen patients had combined CHF and ARPKD, while 10 had isolated ARPKD. The diagnosis was incidental in 13 patients (56.5%), whereas five patients (21.7%) presented with an abdominal mass. Most patients had mutations in the Conclusion: Although kidney involvement is often predominant, hepatic complications may develop over time, particularly in patients with combined disease. A collaborative, multidisciplinary approach is essential for effectively managing the complex manifestations of these ciliopathies.