Hepatorenal fibrocystic diseases in children

Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11.


Background: Hepatorenal fibrocystic diseases (HRFCDs) are a group of monogenic disorders characterized by developmental abnormalities involving the liver and kidney. In this study, we performed genotype and phenotype analyses of children with HRFCDs to determine the distribution of underlying diseases.

Methods: A total of 36 children with HRFCDs were recruited, with genetic tests being performed in 22 patients and 14 patients diagnosed clinically as having autosomal recessive polycystic kidney disease (ARPKD).

Results: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). Renal function deteriorated faster in children with NPHP13. The main hepatic pathology was Caroli disease in the NPHP13 patients, while most other patients had Caroli syndrome or congenital hepatic fibrosis. Of note, three of four MKS3 patients had an accompanying choledochal cyst. No ARPKD patient had other organ involvement, while several NPHP13 patients had ocular and/or neurodevelopmental involvement. In contrast, all MKS3 patients had severe ocular and neurodevelopmental involvement.

Conclusions: NPHP13 is a major disease in the HRFCD category, and thorough evaluation of its clinical features, including kidney, liver and other organ involvement, may aid in the differential diagnosis of HRFCD.

Keywords: Autosomal-recessive polycystic kidney disease; Caroli disease; Ciliopathy; Congenital hepatic fibrosis; Hepatorenal fibrocystic disease; Nephronophthisis 13.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Caroli Disease / diagnosis
  • Caroli Disease / epidemiology*
  • Caroli Disease / genetics
  • Child
  • Child, Preschool
  • Ciliary Motility Disorders / diagnosis
  • Ciliary Motility Disorders / epidemiology*
  • Ciliary Motility Disorders / genetics
  • Encephalocele / diagnosis
  • Encephalocele / epidemiology*
  • Encephalocele / genetics
  • Female
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / epidemiology*
  • Genetic Diseases, Inborn / genetics
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Infant
  • Kidney Failure, Chronic / epidemiology
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / epidemiology*
  • Liver Cirrhosis / genetics
  • Male
  • Phenotype
  • Polycystic Kidney Diseases / diagnosis
  • Polycystic Kidney Diseases / epidemiology*
  • Polycystic Kidney Diseases / genetics
  • Polycystic Kidney, Autosomal Recessive / diagnosis
  • Polycystic Kidney, Autosomal Recessive / epidemiology*
  • Polycystic Kidney, Autosomal Recessive / genetics
  • Predictive Value of Tests
  • Prognosis
  • Renal Insufficiency, Chronic / epidemiology
  • Republic of Korea / epidemiology
  • Risk Factors
  • Young Adult

Supplementary concepts

  • Hepatic Fibrosis, Congenital
  • Meckel syndrome type 3