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一名患有马凡综合征的患者出现睾丸网巨大管状扩张。

Massive tubular ectasia of the rete testes in a patient with Marfan syndrome.

作者信息

Lee Ashley, Low Ronny, McCombie Steve, Hayne Dickon

机构信息

South Metropolitan Health Service, 11 Robin Warren Drive, Murdoch, 6150, Perth, Western Australia, Australia.

University of Western Australia Medical School, Crawley, Western Australia, Australia.

出版信息

Urol Case Rep. 2025 Feb 3;59:102972. doi: 10.1016/j.eucr.2025.102972. eCollection 2025 Mar.

DOI:10.1016/j.eucr.2025.102972
PMID:40171230
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11959876/
Abstract

This case study explores massive tubular ectasia of the rete testes in a patient with Marfan syndrome. Marfan syndrome is a connective tissue disorder and has no known association with tubular ectasia in published research. Despite the unclear pathophysiology of tubular ectasia, potential causes include mechanical obstruction and congenital deformity. The patient, a male in his 40s, presented with bilateral testicular pain and swelling up to a volume of 200 cc over two years. Tubular ectasia was diagnosed on ultrasound and MRI, no obstructive aetiology was identified. Initial conservative management was chosen, but further enlargement led to reconsideration of treatment options.

摘要

本病例研究探讨了一名马凡综合征患者的睾丸网巨大管状扩张。马凡综合征是一种结缔组织疾病,在已发表的研究中尚无与管状扩张相关的报道。尽管管状扩张的病理生理学尚不清楚,但潜在原因包括机械性梗阻和先天性畸形。该患者为40多岁男性,两年来双侧睾丸疼痛并肿大,体积达200立方厘米。经超声和磁共振成像诊断为管状扩张,未发现梗阻病因。最初选择了保守治疗,但进一步肿大促使重新考虑治疗方案。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e46/11959876/40efc27a0502/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e46/11959876/ec45f84aa2c3/gr1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e46/11959876/40efc27a0502/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e46/11959876/ec45f84aa2c3/gr1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e46/11959876/40efc27a0502/gr2.jpg

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本文引用的文献

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FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.FBN1:马凡综合征及其他遗传疾病的致病基因。
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Tubular ectasia of the rete testis (TERT). Differential diagnosis of cystic testicular disorders.睾丸网管状扩张(TERT)。囊性睾丸疾病的鉴别诊断。
Arch Ital Urol Androl. 2015 Mar 31;87(1):5-7. doi: 10.4081/aiua.2015.1.5.
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The revised Ghent nosology for the Marfan syndrome.修订版马凡综合征根特分类法。
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Marfan syndrome. Part 1: pathophysiology and diagnosis.马凡综合征。第 1 部分:病理生理学和诊断。
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Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.1013例马凡综合征或相关表型及FBN1突变先证者中突变类型和位置对临床结局的影响:一项国际研究
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Cystic ectasia of the rete testis: clinical and radiographic features.睾丸网囊肿性扩张:临床及影像学特征
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Cystic transformation of the rete testis.睾丸网的囊性变
Am J Surg Pathol. 1996 Oct;20(10):1231-9. doi: 10.1097/00000478-199610000-00009.