ArticlePediatric nephrology (Berlin, Germany)2016
Hepatorenal fibrocystic diseases in children.
Article in Pediatric nephrology (Berlin, Germany), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.Human mutation · 2026Article
- Congenital hepatic fibrosis in an adult female combined with Von Meyenburg complex and autosomal dominant polycystic kidney disease: a case report.Frontiers in gastroenterology (Lausanne, Switzerland) · 2026Article
- Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report.CEN case reports · 2024Article
- Multivariate canonical correlation analysis identifies additional genetic variants for chronic kidney disease.NPJ systems biology and applications · 2024Article
- Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.The American journal of case reports · 2023Article
- Article
- Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.American journal of human genetics · 2022Article
- Hepatic manifestations of systemic disease: an imaging-based review.Pediatric radiology · 2022Review
- Histomorphology and Immunohistochemistry of a Congenital Nephromegaly Demonstrate Concurrent Features of Heritable and Acquired Cystic Nephropathies in a Girgentana Goat (Case reports in veterinary medicine · 2021Article
- Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study.BMC gastroenterology · 2020Article
- Acute Kidney Injury and Renal Regional Oxygen Saturation During Pediatric Liver Transplantation.Annals of transplantation · 2020Article
- Acute kidney injury in children with chronic liver disease.Pediatric nephrology (Berlin, Germany) · 2019Review
- Nephronophthisis: A review of genotype-phenotype correlation.Nephrology (Carlton, Vic.) · 2018Review
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Authors and funding
10 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHepatorenal 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.
methodsA 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).
resultsIn 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.
conclusionsNPHP13 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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