Caroli Disease Associated With Vein of Galen Malformation in a Male Child

Grieb, Dominik; Feldkamp, Axel; Lang, Thomas; Melter, Michael; Stroszczynski, Christian; Brassel, Friedhelm; Meila, Dan

doi:10.1542/peds.2013-0747

Cited by 6 publications

(5 citation statements)

References 19 publications

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“…In ECs lacking primary cilia, we predict reduced translocation of the p-SMAD1/5/8 and SMAD4 complex to the nucleus and reduced transcription of their target genes ( Taylor and Khachigian, 2000 ; Li et al, 2011 ). 4- There have been a limited number of isolated case reports of ciliopathy patients presenting with AVMs and arteriovenous fistulas in the brain, the cervix and the lungs ( Banerjee and Rana, 1976 ; Proesmans et al, 1982 ; Tsuruda et al, 1996 ; Nishida et al, 2002 ; Bit et al, 2012 ; Grieb et al, 2014 ; Aregullin et al, 2019 ). Nonetheless, there does not appear to be a consistently established link between ciliopathies and AVMs or other vascular malformations in animal models or in the clinic.…”

Section: Discussionmentioning

confidence: 99%

Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia

Eisa-Beygi

Burrows²,

Link³

2022

Front. Cell Dev. Biol.

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Hereditary hemorrhagic telangiectasia (HHT) is associated with defective capillary network, leading to dilated superficial vessels and arteriovenous malformations (AVMs) in which arteries connect directly to the veins. Loss or haploinsufficiency of components of TGF-β signaling, ALK1, ENG, SMAD4, and BMP9, have been implicated in the pathogenesis AVMs. Emerging evidence suggests that the inability of endothelial cells to detect, transduce and respond to blood flow, during early development, is an underpinning of AVM pathogenesis. Therefore, components of endothelial flow detection may be instrumental in potentiating TGF-β signaling in perfused blood vessels. Here, we argue that endothelial cilium, a microtubule-based and flow-sensitive organelle, serves as a signaling hub by coupling early flow detection with potentiation of the canonical TGF-β signaling in nascent endothelial cells. Emerging evidence from animal models suggest a role for primary cilia in mediating vascular development. We reason, on recent observations, that endothelial cilia are crucial for vascular development and that embryonic loss of endothelial cilia will curtail TGF-β signaling, leading to associated defects in arteriovenous development and impaired vascular stability. Loss or dysfunction of endothelial primary cilia may be implicated in the genesis of AVMs due, in part, to inhibition of ALK1/SMAD4 signaling. We speculate that AVMs constitute part of the increasing spectrum of ciliopathy-associated vascular defects.

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Section: Discussionmentioning

confidence: 99%

Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia

Eisa-Beygi

Burrows²,

Link³

2022

Front. Cell Dev. Biol.

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“…Caroli hastalığı ve Caroli sendromu arasındaki genetik köken farklılığı henüz aydınlatılamamıştır. Ayrıca Galen malformasyonu ve Caroli hastalığı birlikteliğinin bidirildiği bir çalışmada , VEGF overekspresyonunun her iki hastalığın gelişiminde etken olduğuna dair hipotezler mevcuttur (7) (1,3). Hastalarda, kolanjit ataklarında transaminaz yüksekliği, hiperbilirubinemi, lökositoz ayrıca pansitopeni, anemi gibi laboratuvar bulguları görülebilir.…”

Section: Discussionunclassified

Caroli Disease: Case report

Yilmaz¹,

Arslan²,

Balamtekin³

2020

JSTR

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Caroli disease is a congenital disorder characterized by multifocal, segmental dilatation or ectasia of large intrahepatic bile ducts. The disease develops due to a remodeling defect, but its molecular pathogenesis is not fully understood. The absence of specific symptoms and signs in Caroli's disease complicates the diagnosis. The magnetic resonance cholangiography (MRCP) is the most sensitive method in diagnosis. Prognosis depends on the degree of liver fibrosis and liver dysfunction and whether or not renal dysfunction is present. In this article, we present a 1.5-year-old female patient diagnosed with Caroli's disease at the age of 8 months.

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“…Предположена взаимосвязь патогенеза этих двух редких заболеваний с возможным общим молекулярным механизмом -сверхэкспрессией фактора роста эндотелия сосудов и его рецепторов. Также возможен вклад повышенной экспрессии лиганда Notch Jaged 1 как в развитии мозговых артериовенозных мальформаций в целом, так и в образовании расширенных внутрипеченочных желчных протоков, например при болезни Кароли [4]. N. Kadakia и др.…”

Section: Discussionunclassified

Caroli Disease (Clinical Observation)

Никитин

Карабиненко

Никитин

et al. 2019

Rossijskij žurnal gastroènterologii, gepatologii, koloproktolog

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The incidence of Caroli disease is estimated to be 1 case per 1 million people; as a result, there are very few available clinical observations. At the moment, the treatment of Caroli disease is limited to symptomatic therapy and the prevention of complications, as well as to corrective surgery and liver transplantation.Aim. The aim of this observation is to describe one case of a rare congenital liver disease – Caroli disease – characterised by a segmented non-obstructive fibrocystic dilation of the intrahepatic bile ducts.Key findings. A 21-year-old woman was hospitalised with the signs of a systemic inflammatory reaction, hepatosplenomegaly, jaundice, portal hypertension, hepatocellular insufficiency, as well as with the manifestations of cytolytic and cholestatic syndromes. At the age of 8, she was diagnosed with a cyst of the bile ducts, which was treated with cystoenteroanastomosis. At the age of 20, in connection with high portal hypertension, portocaval shunting was performed and a mesenteric-caval anastomosis was applied. During the present hospitalisation, an expansion of the intrahepatic bile ducts was revealed by ultrasound and MSCT of the abdominal cavity with contrast, which made it possible to diagnose Caroli disease.Conclusion. A case of Caroli disease is described, which resulted in continuously recurrent cholangitis and biliary cirrhosis. This state required liver transplantation. Caroli disease should be included in differential diagnosis in patients suffering from the fever of unknown origin and cholestasis syndrome. An early diagnosis of Caroli disease is important for preventing complications, improving the quality of life and increasing the life expectancy of patients suffering from this rare disease.

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Caroli Disease Associated With Vein of Galen Malformation in a Male Child

Cited by 6 publications

References 19 publications

Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia

Endothelial cilia dysfunction in pathogenesis of hereditary hemorrhagic telangiectasia

Caroli Disease: Case report

Caroli Disease (Clinical Observation)

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