目的： 分析1例常染色体显性多囊肾（autosomal dominant polycystic kidndy disease,ADPKD）患者发生肺栓塞（pulmonary thromboembolism, PTE）的临床资料,并总结数据库报道的该病合并静脉血栓形成（venous thromboembolism,VTE）的诊断和治疗。目的： 分析我院收治的1例ADPKD[存在多囊肝（polycystic liver disease, PLD）]合并PTE患者,同时收集PubMed及万方等数据库中报道ADPKD合并VTE患者的临床表现及实验室检测,探讨该病的诊疗。结果： 本例患者因胸痛、气促,查肺通气灌注及下肢深静脉显像发现PTE及下肢深静脉血栓;腹部增强MRI提示下腔静脉肝段狭窄,PLD伴多囊肾;全外显子测序显示PKD1基因杂合变异,PROS1基因杂合变异。共收集数据库报道ADPKD病例15例（13例存在PLD）,其中合并下腔静脉血栓者15例,合并肝静脉血栓者2例,合并下肢深静脉血栓者12例,合并PTE 2例。文献中10例患者及本例患者经过低分子肝素桥接华法林抗凝,症状缓解,5例患者需硬化剂治疗、下腔静脉滤器植入及手术治疗。结论： ADPKD不常被认为是VTE发生的原因,但患者存在多囊肾的同时,多数存在PLD,压迫下腔静脉易导致血栓形成,临床医师需注意;本病诊断有赖于影像,治疗以抗凝为主,减轻囊肿压迫为辅。

Objective: To analyze the clinical data of a patient diagnosed as autosomal dominant polycystic kidney disease (ADPKD) complicated with pulmonary embolism (PE), and review reported cases in data base to explore the diagnosis and treatment in the ADPKD patients with venous thromboembolism(VTE). Methods: A 45-year-old male diagnosed as ADPKD [also had polycystic liver disease (PLD)] and pulmonary embolism (PE) was admitted in our hospital, and the clinical manifestations and laboratory results were analyzed. The diagnosis and treatment in the patients with ADPKD complicated with VTE were reviewed through searching PubMed and entire database. Results: The ADPKD patient with PLD, presenting with chest pain and shortness of breath, was diagnosed as PE using pulmonary ventilation perfusion examination and as deep VTE through imaging of deep venous. The MRI enhancement of the upper abdominal organs showed the stenosis lesions in hepatic segment of inferior vena cava, and polycystic liver combined with polycystic kidney. The heterozygous variation of PKD1 gene and PROS1 gene were detected by the whole exon sequencing. A total of 15 ADPKD patients complicated with deep VTE were reviewed. Among them, all cases had inferior vena cava thrombosis (IVCT), 13 cases had PLD, 2 cases had hepatic vein thrombosis, 12 cases had VTE, and 2 cases had PE. The symptoms of 10 ADPKD patients were relieved after anticoagulation treatment with heparin and warfarin, while 5 patients needed hardener or inferior vena cava filter placement or surgical treatment. Conclusions: The polycystic kidney(PKD) and PLD are not considered as the most common causes for VTE, which are easy to be ignored in medical practice. The ADPKD patients usually complicated with PLD, which may cause compression of inferior vena cava and lead to embolism. The primary treatment is anticoagulation, and the adjuvant therapy is relief of cyst compression.