常染色体显性多囊肾合并肺栓塞一例并文献复习

doi:10.16150/j.1671-2870.2022.01.015

摘要/Abstract

摘要：

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。

关键词: 静脉栓塞, 多囊肝, 多囊肾, 肺栓塞

Abstract:

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.

Key words: Thrombosis, Polycystic liver, Polycystic kidney, Pulmonary embolism

中图分类号:

R554.⁺9

蔡晓婷, 易华华, 林佳媛, 陈聆. 常染色体显性多囊肾合并肺栓塞一例并文献复习[J]. 诊断学理论与实践, 2022, 21(01): 80-85.

CAI Xiaoting, YI Huahua, LIN Jiayuan, CHEN Ling. Autosomal dominant polycystic kidney disease complicated with pulmonary embolism: a case report and literature review[J]. Journal of Diagnostics Concepts & Practice, 2022, 21(01): 80-85.

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参考文献 20

[1]	Chen Y, Yang K, Marušic A, et al. A Reporting Tool for Practice Guidelines in Health Care: The RIGHT Statement[J]. Ann Intern Med, 2017, 166(2):128-132. doi: 10.7326/M16-1565 URL
[2]	Paul BM, Vanden Heuvel GB. Kidney: polycystic kidney disease[J]. Wiley Interdiscip Rev Dev Biol, 2014, 3(6):465-87. doi: 10.1002/wdev.152 URL
[3]	O′Sullivan DA, Torres VE, Heit JA, et al. Compression of the inferior vena cava by right renal cysts: an unusual cause of IVC and/or iliofemoral thrombosis with pulmonary embolism in autosomal dominant polycystic kidney disease[J]. Clin Nephrol, 1998, 49(5):332-334.
[4]	Maeda T, Uchida Y, Oyamada K, et al. Thrombosis in inferior vena cava due to enlarged renal cysts in autosomal dominant polycystic kidney disease[J]. Intern Med, 2010, 49(17):1891-1894. doi: 10.2169/internalmedicine.49.3748 URL
[5]	Iguchi S, Kasai A, Kishimoto H, et al. Thrombosis in inferior vena cava (IVC) due to intra-cystic hemorrhage into a hepatic local cyst with autosomal dominant polycystic kidney disease(ADPKD)[J]. Intern Med, 2004, 43(3):209-212. doi: 10.2169/internalmedicine.43.209 URL
[6]	Yaqoob M, Saffman C, Finn R, et al. Inferior vena caval compression by hepatic cysts: an unusual complication of adult polycystic kidney disease[J]. Nephron, 1990, 54(1):89-91. pmid: 2296350
[7]	Yamasaki K, Haruyama N, Taniguchi M, et al. Subacute pulmonary embolism in a hemodialysis patient, successfully treated with surgical thrombectomy[J]. CEN Case Rep, 2016, 5(1):74-77. doi: 10.1007/s13730-015-0195-9 URL
[8]	Torres VE, Rastogi S, King BF, et al. Hepatic venous outflow obstruction in autosomal dominant polycystic kidney disease[J]. J Am Soc Nephrol, 1994, 5(5):1186-1192. doi: 10.1681/ASN.V551186 pmid: 7873728
[9]	Jalal DI, Chonchol M, Targher G. Disorders of hemostasis associated with chronic kidney disease[J]. Semin Thromb Hemost, 2010, 36(1):34-40. doi: 10.1055/s-0030-1248722 URL
[10]	Coresh J, Selvin E, Stevens LA, et al. Prevalence of chronic kidney disease in the United States[J]. JAMA, 2007, 298(17):2038-2047. doi: 10.1001/jama.298.17.2038 pmid: 17986697
[11]	Sørensen HT, Horvath-Puho E, Pedersen L, et al. Venous thromboembolism and subsequent hospitalisation due to acute arterial cardiovascular events: a 20-year cohort study[J]. Lancet, 2007, 370(9601):1773-1779. pmid: 18037081
[12]	Mahmoodi BK, Gansevoort RT, Næss IA, et al. Association of mild to moderate chronic kidney disease with venous thromboembolism: pooled analysis of five prospective general population cohorts[J]. Circulation, 2012, 126(16):1964-1971. doi: 10.1161/CIRCULATIONAHA.112.113944 URL
[13]	Christiansen CF, Schmidt M, Lamberg AL, et al. Kidney disease and risk of venous thromboembolism: a nationwide population-based case-control study[J]. J Thromb Haemost, 2014, 12(9):1449-1454. doi: 10.1111/jth.12652 pmid: 25040558
[14]	ten Kate MK, van der Meer J. Protein S deficiency: a clinical perspective[J]. Haemophilia, 2008, 14(6):1222-1228. doi: 10.1111/j.1365-2516.2008.01775.x pmid: 18479427
[15]	Ikejiri M, Tsuji A, Wada H, et al. Analysis three abnormal Protein S genes in a patient with pulmonary embolism[J]. Thromb Res, 2010, 125(6):529-532. doi: 10.1016/j.thromres.2009.12.025 pmid: 20181378
[16]	Mateo J, Oliver A, Borrell M, et al. Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism--results of the Spanish Multicentric Study on Thrombophilia (EMET-Study)[J]. Thromb Haemost, 1997, 77(3):444-451. doi: 10.1055/s-0038-1655986 URL
[17]	Konstantinides SV, Barco S, Lankeit M, et al. Management of Pulmonary Embolism: An Update[J]. J Am Coll Cardiol, 2016, 67(8):976-990. doi: 10.1016/j.jacc.2015.11.061 pmid: 26916489
[18]	Demir E, Alan C, Kilciler M, et al. Comparison of ethanol and sodium tetradecyl sulfate in the sclerotherapy of renal cyst[J]. J Endourol, 2007, 21(8):903-905. doi: 10.1089/end.2006.0462 URL
[19]	Okeke AA, Mitchelmore AE, Keeley FX, et al. A comparison of aspiration and sclerotherapy with laparoscopic de-roofing in the management of symptomatic simple renal cysts[J]. BJU Int, 2003, 92(6):610-613. pmid: 14511045
[20]	Kohli V, Pande GK, Dev V, et al. Management of hepatic venous outflow obstruction[J]. Lancet, 1993, 342(8873):718-722. pmid: 8103826

病例（参考文献）	年龄（岁）	性别	ADPKD	PLD	IVCT	DVT	PTE	HVT	除抗凝外其他治疗	预后（至发稿）
1^[3]	58	男	+		+	+	+	-	无	症状缓解
2^[4]	71	女	+		+	+	-	-	囊肿硬化剂,囊肿壁切除	症状缓解
3^[5]	76	男	+	+	+	+	-	-	无	症状缓解
4^[6]	47	女	+	+	+	+	-	-	无	症状缓解
5^[7]	53	女	+	+	+	+	+	-	肺动脉取栓	症状缓解
6^[7]	53	女	+	+	+	+	-	-	囊肿切除	症状缓解
7^[7]	61	女	+	+	+	+	-	-	囊肿切除	症状缓解
8^[7]	58	女	+	+	+	-	-	-	囊肿切除	症状缓解
9^[7]	73	女	+	+	+	+	-	+	囊肿切除	死于术后感染
10^[7]	68	女	+	+	+	+	-	+	门脉分流	腹水消失
11^[7]	65	女	+	+	+	+	-	-	囊肿硬化剂,下腔静脉滤器	死于肾衰
12^[7]	71	女	+	+	+	+	-	-	囊肿硬化剂,下腔静脉滤器	死亡原因不详
13^[7]	48	女	+	+	+	-	-	-	囊肿硬化剂,下腔静脉滤器	症状缓解
14^[7]	35	男	+	+	+	+	-	-	下腔静脉滤器	症状缓解
15^[8]	59	男	+	+	+	-	-	-	囊肿硬化剂,下腔静脉滤器	症状缓解
16（本例）	45	男	+	+		+	+		无	死于脑血管意外