Related Experiment Video
Updated: Jan 23, 2026
A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of wnt5a Causes Cysts in Zebrafish Kidneys
Published on: December 2, 2014
Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience
Derya Altay1, Sibel Yel2, İsmail Dursun2
1Department of Pediatric Gastroenterology, Erciyes University Faculty of Medicine, Kayseri, Türkiye.
Insights
Congenital hepatic fibrosis (CHF) and autosomal recessive polycystic kidney disease (ARPKD) in children often present subtly, with diagnosis frequently incidental. While kidney issues dominate, hepatic complications can arise, necessitating a multidisciplinary approach for these rare ciliopathies.
Area of Science:
- Pediatric Gastroenterology
- Pediatric Nephrology
- Genetics
- Ciliopathies
Background:
- Congenital hepatic fibrosis (CHF) and autosomal recessive polycystic kidney disease (ARPKD) are rare pediatric conditions with diverse clinical presentations.
- Diagnostic difficulties are common due to the heterogeneity of symptoms in affected children.
Purpose of the Study:
- To review the clinical characteristics and outcomes of pediatric patients diagnosed with CHF and/or ARPKD.
- To highlight diagnostic challenges and management strategies for these complex ciliopathies.
Main Methods:
- Retrospective review of patient records from Pediatric Gastroenterology and Pediatric Nephrology Departments.
- Analysis of clinical data, genetic mutations, diagnostic findings, and treatment outcomes in a cohort of 23 pediatric patients.
Main Results:
- The study included 23 pediatric patients, with a median age of 12.7 years; diagnosis occurred early (median 0.6 years).
- Thirteen patients had combined CHF and ARPKD, 10 had isolated ARPKD. Diagnosis was incidental in 56.5% and presented as an abdominal mass in 21.7%.
- Mutations in the PKHD1 gene were common; kidney enlargement and cysts were prevalent. Three patients required transplantation, with varied outcomes. Disease progression was generally mild, except for one infant death.
Conclusions:
- While kidney involvement is often primary in CHF/ARPKD, hepatic complications can emerge, especially in combined cases.
- Effective management of these ciliopathies requires a collaborative, multidisciplinary approach integrating pediatric gastroenterology, nephrology, and genetics.
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.
Related Concept Videos
01:08Effect of Hepatic Disease on Pharmacokinetics: Dose Adjustments Due to Hepatic Impairment
01:26Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow
02:45The Ratio of X Chromosome to Autosomes
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
01:25Chronic Kidney Disease I: Introduction
01:24Chronic Kidney Disease II: Clinical Manifestations
01:22Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test