膀偏瘤与酸脱酶相关,一种突变呈现为盆腔疼痛
Gurbir Hehar1, Dalia Rahmon2, Ajaz Banka1
1Beaumont Hospital Royal Oak, Royal Oak, MI 48073, USA.
JCEM case reports
|November 1, 2023
概括
一名年轻女性被诊断出一种罕见的泌尿膀副瘤,患有盆腔疼痛. 早期发现这种分泌catecholamine的瘤对于预防严重并发症至关重要.
科学领域:
- 泌尿器科 泌尿器科 泌尿器科 泌尿器科
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
背景情况:
- 膀偏瘤是一种非常罕见的瘤.
- 临床表现可能会变化,往往导致诊断延迟.
- 症状可能包括盆腔疼痛和多余甲基荷兰胺的迹象,特别是在排尿期间.
研究的目的:
- 报告一个年轻女性尿膀偏瘤病例.
- 突出诊断挑战和临床怀疑的重要性.
- 强调需要改善膀偏瘤的诊断策略.
主要方法:
- 盆腔超声波和磁共振成像 (MRI) 用于初始质量检测.
- 囊镜与尿道外切除以获取组织.
- 组织病理学检查以确定确诊.
- 实验室检测过多的甲基荷胺 (尿液和血).
- Ga-DOTATATE正子发射断层扫描-计算机断层扫描 (PET-CT) 用于功能成像.
- 对糖酸脱酶A (SDH-A) 突变进行遗传检测.
主要成果:
- 在膀壁中发现了一个1.9厘米的质量.
- 组织病理学证实了 paraganglioma.
- 检测到提升的类甲基胺代谢物 (诺尔上腺素,诺米甲上腺素).
- PET-CT显示,在没有转移的情况下,质量吸收增加.
- SDH-A突变证实了偏角质瘤综合征5.
- 患者接受了α-上腺体阻塞,随后进行了部分囊切除术.
结论:
- 膀偏瘤需要高度的临床怀疑,因为它的稀有性和各种呈现.
- 过多的甲基荷兰胺,特别是与排尿相关的,是关键的诊断线索.
- 尽管有生物化学证据,但诊断往往会延迟,这强调了需要更好的诊断方法.
- 及时诊断和治疗对于避免危及生命的心脏问题和瘤扩散至关重要.
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