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Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study
Hepatology ( IF 13.5 ) Pub Date : 2022-08-21 , DOI: 10.1002/hep.32735
Jingxuan Shan 1, 2 , André Megarbane 3, 4 , Aziz Chouchane 5, 6 , Deepak Karthik 1 , Ramzi Temanni 7 , Atilio Reyes Romero 8 , Huiying Hua 9 , Chun Pan 9 , Xixi Chen 9 , Murugan Subramanian 1 , Chadi Saad 10 , Hamdi Mbarek 10 , Cybel Mehawej 3 , Eliane Chouery 3 , Sirin W Abuaqel 1 , Alexander Dömling 8 , Sami Remadi 11 , Cesar Yaghi 12 , Pu Li 9 , Lotfi Chouchane 1, 2, 13
Affiliation  

Porto-sinusoidal vascular disorder (PSVD) is a group of liver vascular diseases featuring lesions encompassing the portal venules and sinusoids unaccompanied by cirrhosis, irrespective of the presence/absence of portal hypertension. It can occur secondary to coagulation disorders or insult by toxic agents. However, the cause of PSVD remains unknown in most cases. Hereditary cases of PSVD are exceptionally rare, but they are of particular interest and may unveil genetic alterations and molecular mechanisms associated with the disease.

中文翻译:

门窦血管疾病的遗传易感性:基于功能基因组的多代家庭研究

门窦血管疾病 (PSVD) 是一组肝血管疾病,其特征是病变包括门静脉和肝窦,不伴有肝硬化,无论是否存在门脉高压。它可能继发于凝血功能障碍或有毒物质损伤。然而,在大多数情况下,PSVD 的病因仍然未知。PSVD 的遗传性病例极为罕见,但它们特别令人感兴趣,并且可能揭示与该疾病相关的遗传改变和分子机制。
更新日期:2022-08-21
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