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Updated: Apr 5, 2026
Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Hepatorenal fibrocystic diseases in children
Eujin Park1, Jiwon M Lee1,2, Yo Han Ahn1
1Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.
Insights
Hepatorenale fibrocystic diseases (HRFCDs) in children are most commonly autosomal recessive polycystic kidney disease (ARPKD), followed by nephronophthisis 13 (NPHP13). NPHP13 shows faster renal decline and distinct liver and systemic involvement, aiding HRFCD differential diagnosis.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Hepatology
Background:
- Hepatorenal fibrocystic diseases (HRFCDs) encompass monogenic disorders affecting liver and kidney development.
- Understanding the spectrum of HRFCDs is crucial for accurate diagnosis and management in pediatric populations.
Purpose of the Study:
- To determine the etiological distribution of hepatorenal fibrocystic diseases in a cohort of pediatric patients.
- To characterize the distinct clinical phenotypes associated with different genetic causes of HRFCDs.
Main Methods:
- Genotype and phenotype analyses were conducted in 36 children diagnosed with HRFCDs.
- Genetic testing was performed in 22 patients; 14 were clinically diagnosed with autosomal recessive polycystic kidney disease (ARPKD).
Main Results:
- Autosomal recessive polycystic kidney disease (ARPKD) was the most frequent diagnosis (44.4%), followed by nephronophthisis 13 (NPHP13) (30.6%) and Meckel-Gruber syndrome type 3 (MKS3) (11.1%).
- NPHP13 patients exhibited more rapid renal function decline and specific hepatic (Caroli disease) and systemic involvement (ocular, neurodevelopmental).
- MKS3 patients frequently presented with choledochal cysts and severe ocular and neurodevelopmental issues, distinguishing them from ARPKD patients who lacked other organ involvement.
Conclusions:
- Nephronophthisis 13 (NPHP13) is a significant contributor to the HRFCD spectrum in children.
- Comprehensive evaluation of NPHP13's multi-organ manifestations is essential for differentiating it within HRFCDs.
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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