title: Hepatorenal fibrocystic diseases in children.
abstract: 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.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.
authors.forename: Eujin
authors.initials: E
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.|Department of Pediatric Nephrology, Chungnam National University Children's Hospital, Daejeon, Korea.
authors.forename: Jiwon M
authors.initials: JM
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.
authors.forename: Yo Han
authors.initials: YH
authors.lastname: Ahn
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.|Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.|Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: I I Soo
authors.initials: II
authors.lastname: Ha
authors.affiliation: Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Joo Hoon
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Young Seo
authors.initials: YS
authors.lastname: Park
authors.affiliation: Translational Bioinformatics Lab, Samsung Genome Institute, Samsung Medical Center, Seoul, Korea.
authors.forename: Nayoung K D
authors.initials: NK
authors.lastname: Kim
authors.affiliation: Samsung Genome Institute, Samsung Medical Center, Seoul, Korea.|Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Woong-Yang
authors.initials: WY
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea. cheonghi@snu.ac.kr.|Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea. cheonghi@snu.ac.kr.|Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea. cheonghi@snu.ac.kr.
authors.forename: Hae Ii
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D016767:Caroli Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D004677:Encephalocele / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000453:epidemiology; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D011237:Predictive Value of Tests; D011379:Prognosis; D051436:Renal Insufficiency, Chronic / Q000453:epidemiology; D056910:Republic of Korea / Q000453:epidemiology; D012307:Risk Factors; D055815:Young Adult
keywords: Autosomal-recessive polycystic kidney disease; Caroli disease; Ciliopathy; Congenital hepatic fibrosis; Hepatorenal fibrocystic disease; Nephronophthisis 13