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布加综合征合并内脏利什曼病及凝血因子V莱顿突变

Budd-Chiari syndrome associated with visceral leishmaniasis and factor V Leiden mutation.

作者信息

Gürkan Emel, Unsal Cağatay, Başlamişli Fikri, Arslan Didem

机构信息

Department of Hematology, Cukurova University Medical School, Adana, Turkey.

出版信息

J Thromb Thrombolysis. 2004 Dec;18(3):205-7. doi: 10.1007/s11239-005-0347-4.

Abstract

We here report a case of subacute Budd-Chiari syndrome (BCS) related to Factor V Leiden (FVL) mutation in the presence of visceral leishmaniasis. A 17-year-old man was admitted to hospital because of abdominal pain, pretibial edema and fever. The clinical picture of BCS had been developed within several months. BCS was diagnosed by radiographic examination. On DNA analysis, a heterozygote Arg506Gln mutation in the factor V gene was found. Histological examination of the bone marrow showed intracellular leishmania amastigotes. Despite appropriate treatment patient's clinical condition deteriorated rapidly and died with multiorgan failure. FVL mutation is the most common procoagulant disorder and account for many cases of BCS. This case report demonstrates that in addition to duration and severity of the disease accompanying conditions including infections are prognostically significant for the outcome of this potentially lethal disease.

摘要

我们在此报告一例内脏利什曼病患者并发亚急性布加综合征(BCS)且与凝血因子V莱顿(FVL)突变相关的病例。一名17岁男性因腹痛、胫前水肿和发热入院。BCS的临床表现于数月内逐渐显现。通过影像学检查确诊为BCS。DNA分析发现凝血因子V基因存在杂合子Arg506Gln突变。骨髓组织学检查显示细胞内利什曼原虫无鞭毛体。尽管进行了适当治疗,患者的临床状况仍迅速恶化,最终死于多器官功能衰竭。FVL突变是最常见的促凝障碍,也是许多BCS病例的病因。本病例报告表明,除了疾病的持续时间和严重程度外,包括感染在内的伴随疾病对这种潜在致命疾病的预后也具有重要意义。

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