Caroli syndrome: a clinical case with detailed histopathological analysis

Мавликеев, М. О.; Titova, Angelina; Saitburkhanova, Renata; Abyzova, M.; Sayfutdinov, I M; Gizzatullina, Nasima F.; Kotov, Ilya; Plaksa, Igor; Исаев, А. А.; Абдулхаков, С. Р.; Kiyasov, Andrey P.; Деев, Р. В.

doi:10.1007/s12328-018-0917-6

Cited by 9 publications

(4 citation statements)

References 17 publications

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“…USG is the best initial examination because it is cheap, fast, and non-invasive, though it has low specificity and is operator-sensitive. It may show irregular dilatation of the intra-hepatic bile ducts, sometimes associated with extrahepatic ductal dilatation owing to cholelithiasis [5,15]. USG findings have an accuracy of 27.3% in CD or CS and include intra-hepatic cystic anechoic areas, consisting of fibrovascular bundles (comprising hepatic arteries and portal veins, clearly shown in Doppler USG), linear bridging or septations, and stones.…”

Section: Discussionmentioning

confidence: 99%

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Caroli's Syndrome: A Case Report and Literature Review

Shafqat,

Memon,

Javed

et al. 2023

Cureus

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Synonymous with congenital non-obstructive saccular or fusiform intra-hepatic duct dilatation and congenital communicating cavernous ectasia of the intra-hepatic biliary tract, Caroli's syndrome (CS) is an extremely rare fibro-polycystic liver disorder characterized by ductal plate malformation and consequent peri-portal fibrosis due to segmental intra-hepatic duct dilatation. No more than 200 cases of the syndrome have been reported since 1958. CS may affect one or both lobes of the liver, but more commonly it affects the left hepatic lobe. We describe a rare case of CS localized to the right hepatic lobe in a 21-year-old male, who presented with complaints of upper gastrointestinal (GI) bleeding without any signs or stigmata of chronic liver disease. Personal as well as family history was non-significant except positive for consanguineous parental marriage. General physical examination was unremarkable except for pallor, and upper GI endoscopy revealed columns of bandable esophageal varices which led us to a line of investigations to identify the cause of portal hypertension. Blood tests were non-specific, though imaging studies chiefly abdominal ultrasound, CT abdomen and pelvis with contrast, and magnetic resonance cholangiopancreatography (MRCP) led us to confirmation of the diagnosis of CS in the right hepatic lobe with manifestations of portal hypertension as the predominant feature. Diagnosis was confirmed on liver biopsy which showed right-sided cystic dilations with congenital hepatic fibrosis.

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Section: Discussionmentioning

confidence: 99%

“…Evidence of portal hypertension can be assessed in Doppler studies [8]. The dilated biliary channels appear anechoic on USG and hypodense on CT [6,15].…”

Section: Discussionmentioning

confidence: 99%

Caroli's Syndrome: A Case Report and Literature Review

Shafqat,

Memon,

Javed

et al. 2023

Cureus

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“…The complex allele consists of three missense variants [c.3407A>G; c.8345G>C; c.8606C>A], found on the same paternal chromosome; the variant c.3407A>G was reported several times in cis with other rare variants; Maylikeev et al described it in cis with c.8606C>A variant in a 37‐year‐old male suffering from CS with cystic dilatation of the intrahepatic biliary ducts, liver cirrhosis, and portal hyperthension (Mavlikeev et al, 2019 ); in this work, the authors considered the c.3407A>G variant as pathogenic and the c.8606C>A variant as benign. Gunay‐Aygun et al reported the variant c.3407A>G in cis with a nonsense mutation and considered the variant as unlikely pathogenic, at least in the families examined (Gunay‐Aygun et al, 2010 ).…”

Section: Discussionmentioning

confidence: 99%

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Giacobbe

Dato

Palma

et al. 2022

Molec Gen & Gen Med

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Background Caroli 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). Method We 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. Results Genetic 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. Conclusion The 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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“…Fibrocystin was localized in the cilia of bile duct cells, and a loss-of-function mutation of PKHD1 causes cilia dysfunction with shortening and deformation of cilia, leading to an abnormal Wnt signaling and ductal plate malformation [ 20 ]. Three missense variants (Tyr1136Cys, Arg1369Cys, and Thr2869Lys) of PKHD1 were identified in a patient with Caroli syndrome, these mutations led to a replacement of the polar amino acid by the less polar amino acid in the extracellular domains of fibrocystin affecting fibrocystin deposition/function in the cilia [ 85 ]. Another missense variant (Lys626Arg) of PKHD1 was seen in Caroli syndrome as a paternal inheritance [ 86 ].…”

Section: Introductionmentioning

confidence: 99%

Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics

Lui

Tam

2022

Genes

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Choledochal cysts (CC) is characterized by extra- and/or intra-hepatic b\ile duct dilations. There are two main theories, “pancreaticobiliary maljunction” and “congenital stenosis of bile ducts” proposed for the pathogenesis of CC. Although family cases or CC associated with other anomalies have been reported, the molecular pathogenesis of CC is still poorly understood. Recent advances in transcriptomics and genomics analysis platforms have unveiled key expression signatures/genes/signaling pathways in the pathogenesis of human diseases including CC. This review summarizes insights from genomics and transcriptomics studies into the pathogenesis of CC, with the aim to improve (i) our understanding of its underlying complex pathomechanisms, and (ii) clinical management of different subtypes of CC, in particular their associated hepatic fibrotic change and their risk of malignancy transformation.

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Caroli syndrome: a clinical case with detailed histopathological analysis

Cited by 9 publications

References 17 publications

Caroli's Syndrome: A Case Report and Literature Review

Caroli's Syndrome: A Case Report and Literature Review

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Pathogenesis of Choledochal Cyst: Insights from Genomics and Transcriptomics

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