特纳综合征可能与肝腺瘤有关
Alisha S Ching1, Xiao Zhang1, Katryn N Furuya1
1Department of Pediatrics, University of Wisconsin - Madison, Madison, Wisconsin, USA.
American journal of medical genetics. Part A
|July 11, 2023
概括
特纳综合征 (TS) 患者可能患有肝腺瘤的风险增加,肝腺瘤是一种罕见的肝脏瘤. 这项研究发现TS患者的发病率为1.3%,突显了肝脏监测的必要性.
科学领域:
- 内分泌学 在内分泌学.
- 肝病学 肝病学是一种肝病学.
- 遗传学 遗传学是一种遗传学.
背景情况:
- 特纳综合征 (TS) 是由X染色体异常引起的遗传疾病,导致各种健康问题.
- 在TS中,越来越多地认识到肝脏干扰,包括肥胖症和高氨酸酶.
- 肝腺瘤虽然很少见,但存在恶性转变或破裂的风险.
研究的目的:
- 调查特纳综合征与肝腺瘤发生之间的关联.
- 为了确定特纳综合征患者队列中肝腺瘤的发病率.
主要方法:
- 从2006年到2020年,在一个学术机构对228名特纳综合征患者进行了回顾性分析.
- 对人口统计,药物,实验室和成像数据的审查,包括肝功能测试和肝脏成像.
- 使用ICD-10代码识别被诊断为肝腺瘤的患者.
主要成果:
- 在48.6%的可用测试患者中发现了异常的肝功能测试.
- 在3名患者 (1.3%) 诊断出肝腺瘤,其中1例涉及由于破裂而引起的出血性休克.
- 五名接受肝脏成像的患者 (6.5%) 显示出异常.
结论:
- 特纳综合征患者可能患肝腺瘤的风险较高.
- 目前的建议包括每年对TS进行肝功能监测.
- 在这种人群中,定期的肝脏成像可能有利于早期检测肝脏腺瘤.
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