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Hepatorenal fibrocystic diseases in children

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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.

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Acknowledgment

This study was supported by a grant (HI12C0014) from the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea.

Ethical Approval

Approved by Seoul National University Hospital’s Institutional Review Board.

Informed consent

Prior to this study, informed consent was obtained from all patients or their parents.

Disclosures

None.

Author information

Author notes

  1. Jiwon M. Lee

    Present address: Department of Pediatric Nephrology, Chungnam National University Children’s Hospital, Daejeon, Korea

Authors and Affiliations

  1. Department of Pediatrics, Seoul National University Children’s Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea

    Eujin Park, Jiwon M. Lee, Yo Han Ahn, Hee Gyung Kang, II Soo Ha & Hae II Cheong

  2. Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea

    Hee Gyung Kang & Hae II Cheong

  3. Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea

    II Soo Ha & Hae II Cheong

  4. Department of Pediatrics, Asan Medical Center, Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

    Joo Hoon Lee & Young Seo Park

  5. Translational Bioinformatics Lab, Samsung Genome Institute, Samsung Medical Center, Seoul, Korea

    Nayoung K. D. Kim

  6. Samsung Genome Institute, Samsung Medical Center, Seoul, Korea

    Woong-Yang Park

  7. Sungkyunkwan University School of Medicine, Seoul, Korea

    Woong-Yang Park

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  1. Eujin Park
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Corresponding author

Correspondence to Hae II Cheong.

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Park, E., Lee, J.M., Ahn, Y.H. et al. Hepatorenal fibrocystic diseases in children. Pediatr Nephrol 31, 113–119 (2016). https://doi.org/10.1007/s00467-015-3185-4

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  • DOI: https://doi.org/10.1007/s00467-015-3185-4

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