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 polycystic kidney and hepatic disease 1 gene. Bilateral kidney enlargement and multiple millimetric cysts were identified in the majority of cases. Three patients required organ transplantation during follow-up. Two patients who underwent liver or kidney transplantation experienced no complications, whereas the patient who received combined liver and kidney transplantation developed kidney failure secondary to reflux nephropathy. Except for one patient who died in infancy, disease progression was generally mild in the cohort. 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.