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普拉德-威利综合征合并急性鞍区肺栓塞病例报告

A Case Report of Acute Saddle Pulmonary Embolism in Prader-Willi Syndrome.

作者信息

Rahman Austin, Mittapalli Amar, Goldstein Marlee

机构信息

Emergency Medicine, Lake Erie College of Osteopathic Medicine, Bradenton, USA.

Emergency Medicine, AdventHealth, Tavares, USA.

出版信息

Cureus. 2024 Apr 2;16(4):e57466. doi: 10.7759/cureus.57466. eCollection 2024 Apr.

DOI:10.7759/cureus.57466
PMID:38699101
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11063959/
Abstract

Prader-Willi syndrome (PWS) is an exceedingly rare congenital syndrome of chromosome 15 that presents multiple comorbidities in said individuals. The associated quality of life for those with the disease is often severely diminished; more tragically, mortality associated with the disease is also increased. Pulmonary embolism (PE) is highly associated with mortality and has been shown to be more prevalent in patients with PWS. This case report details a patient with PWS who survived an acute saddle PE and looks to bring more clinical knowledge that can be applied when dealing with individuals with PWS.

摘要

普拉德-威利综合征（PWS）是一种极为罕见的15号染色体先天性综合征，患病个体常伴有多种合并症。该病患者的生活质量往往严重下降；更悲惨的是，与该病相关的死亡率也有所增加。肺栓塞（PE）与死亡率高度相关，且已证实在PWS患者中更为普遍。本病例报告详细介绍了一名患有PWS的患者，该患者在急性骑跨型肺栓塞中幸存下来，旨在提供更多可应用于处理PWS患者的临床知识。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/7f3c35ec6d56/cureus-0016-00000057466-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/131c96133b51/cureus-0016-00000057466-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/84312e6ac3bc/cureus-0016-00000057466-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/a8e658fedadb/cureus-0016-00000057466-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/7f3c35ec6d56/cureus-0016-00000057466-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/131c96133b51/cureus-0016-00000057466-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/84312e6ac3bc/cureus-0016-00000057466-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/a8e658fedadb/cureus-0016-00000057466-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f31/11063959/7f3c35ec6d56/cureus-0016-00000057466-i04.jpg

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本文引用的文献

1
Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome.普拉德-威利综合征无症状个体的血栓形成风险史及D-二聚体水平
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Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches.普拉德-威利综合征中的肥胖：病理生理学机制、营养和药理学方法。
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普拉德-威利综合征患儿接受生长激素治疗的结果：来自ANSWER Program®和NordiNet®国际结果研究的数据。
Int J Pediatr Endocrinol. 2020 Nov 10;2020(1):20. doi: 10.1186/s13633-020-00090-6.
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Association between obesity and venous thromboembolism.肥胖与静脉血栓栓塞之间的关联。
Med Pharm Rep. 2020 Apr;93(2):162-168. doi: 10.15386/mpr-1372. Epub 2020 Apr 22.
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Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader-Willi Syndrome.普拉德-威利综合征患者的血栓形成的年龄分布、合并症和危险因素。
Genes (Basel). 2020 Jan 7;11(1):67. doi: 10.3390/genes11010067.
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Venous Thromboembolism in Prader-Willi Syndrome: A Questionnaire Survey.普拉德-威利综合征中的静脉血栓栓塞症：问卷调查。
Genes (Basel). 2019 Jul 19;10(7):550. doi: 10.3390/genes10070550.
7
ECG in suspected pulmonary embolism.心电图在疑似肺栓塞中的应用。
Postgrad Med J. 2019 Jan;95(1119):12-17. doi: 10.1136/postgradmedj-2018-136178. Epub 2019 Jan 21.
8
Obesity management in Prader-Willi syndrome: current perspectives.普拉德-威利综合征的肥胖管理：当前观点
Diabetes Metab Syndr Obes. 2018 Oct 4;11:579-593. doi: 10.2147/DMSO.S141352. eCollection 2018.
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Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.普拉德-威利综合征的死因：普拉德-威利综合征协会（美国）40年死亡率调查。
Genet Med. 2017 Jun;19(6):635-642. doi: 10.1038/gim.2016.178. Epub 2016 Nov 17.
10
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.普拉德-威利综合征：临床、遗传及内分泌学研究结果综述
J Endocrinol Invest. 2015 Dec;38(12):1249-63. doi: 10.1007/s40618-015-0312-9. Epub 2015 Jun 11.