ArticleMolecular genetics & genomic medicine2022
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 12 citations in OpenAlex.
- Recurrent Fever and Biliary Ectasia Leading to the Diagnosis of Caroli Syndrome: A Diagnostic Challenge.Cureus · 2026Article
- Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.Radiology case reports · 2026Article
- Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.Prenatal diagnosis · 2025Article
- Prenatal diagnosis and molecular characterization ofFrontiers in genetics · 2025Article
- Heritable Chronic Cholestatic Liver Diseases: A Review.Journal of clinical and translational hepatology · 2024Review
- A Unique Case of Caroli Disease in Kenya's Medical Landscape.The American journal of case reports · 2024Article
- Distribution and classifications ofTurkish journal of medical sciences · 2024Article
- Article
- Caroli syndrome associated with atrial septal defect and polydactyly: a case report.Journal of medical case reports · 2023Article
- Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.Molecular genetics & genomic medicine · 2022Article
- Childhood-onset Caroli's disease as a cause of recurrent fever: A case report.Frontiers in pediatrics · 2022Article
- [Autosomal recessive polycystic kidney disease in a girl].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCaroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations. When congenital hepatic fibrosis is associated with the polycystic dilatation of the biliary tract, the condition is referred as Caroli syndrome. The disease is thought to be caused by pathogenic variants in the PKHD1 gene (OMIM *606702).
methodWe report the clinical, biochemical, and molecular characterization of three patients with a clinical suspicion of CS belonging to two different families. The genetic screening was performed using a target custom panel and sequencing was performed on Illumina platform.
resultsGenetic analysis revealed the presence of rare variants in the PKHD1 gene of the analyzed patients. In the first case, and his younger sister, two pathogenic variants (c.2702A>C and c.4870C>T) were found to be associated with a hepatic phenotype at clinical onset, followed by renal disease probably age-related; while in the second case, one pathogenic variant (c.5879C>G) and a complex allele with uncertain clinical significance [c.3407A>G; c.8345G>C; c.8606C>A] were found to be associated with a severe hepatic phenotype.
conclusionThe identification of the genetic causes of the disease and their relationship with the clinical phenotype could have a favorable impact on clinical management and complication prevention.
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