A patient with dyskeratosis congenita and portal hypertension

作     者：Min Wei Yuanyuan Liu Jinhou Li Hongxia Wang Yanjing Gao Min Wei;Yuanyuan Liu;Jinhou Li;Hongxia Wang;Yanjing Gao

作者机构：Department of GastroenterologyQilu Hospital of Shandong UniversityJinanShandongChina Department of GastroenterologyTaian City Central HospitalTai'anShandongChina Department of RadiologyBinzhou Medical University HospitalBinzhouShandongChina 

出 版 物：《Portal Hypertension & Cirrhosis》 (门静脉高压与肝硬化（英文）)

年 卷 期：2023年第2卷第2期

页      面：101-104页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Liver cirrhosis Portal hypertension Dyskeratosis congenita 

摘      要：Portal hypertension(PH)refers to a collection of syndromes characterized by an increase in pressure within the portal venous system and/or elevated portal venous blood flow,most commonly caused by *** condition is frequently associated with viral hepatitis and chronic alcohol abuse,and its complications,such as ascites,hepatic encephalopathy,and esophageal varices,have a considerable impact on *** congenita(DC)is a rare genetic disorder that affects multiple systems,most notably manifesting as dystrophy of the fingernails and toenails,skin pigmentation,and mucosal *** cirrhotic PH is an uncommon complication of DC,we present a case of a young patient who presented with PH and had no history of hepatitis or heavy alcohol *** patient underwent splenectomy and devascularization to treat hypersplenism and esophagogastric varices caused by PH but developed portal vein thrombosis following the *** the patient s cutaneous manifestations and cirrhosis that could not be attributed to common causes,we continued to search for the underlying cause of PH until the diagnosis of DC was finally *** patient was subsequently treated with carvedilol to prevent variceal rebleeding and showed no significant complications or bleeding during follow-up.