获得性局部脂质疏松症患者的临床特征:多中心回顾性研究
Silvia Magno1, Giovanni Ceccarini1, Fernando Corvillo2,3
1Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa 56124, Italy.
The Journal of clinical endocrinology and metabolism
|December 7, 2023
概括
巴拉克-西蒙斯综合征 (BSS) 是一种罕见的脂质营养不良,通常从童年开始,通常与自身免疫性疾病有关. 像体脂测量和自身抗体测试这样的诊断工具有助于识别BSS.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 免疫学 免疫学 免疫学
背景情况:
- 巴拉克-西蒙斯综合征 (BSS) 是一种罕见的,获得的脂质变症.
- 它的特点是身体上部 (脸部,四肢,干) 逐渐减少皮下脂肪.
- 病变发生过程尚未完全理解,可能涉及自身免疫机制.
研究的目的:
- 提供BSS患者的综合性临床,免疫和代谢资料.
- 验证现有的诊断工具,并探索新的方法.
- 调查潜在的疾病触发因素和遗传倾向.
主要方法:
- 根据国际指南,诊断出26名BSS患者.
- 进行人体测量测量,生物化学测试和自身抗体查.
- 评估HLA状态并选LMNB2基因.
主要成果:
- 主要是女性 (73%),在童年开始 (77%的中位年龄为8岁).
- 上肢与下肢脂肪质量比率显示出具有预测性诊断价值.
- 代谢并发症 (糖尿病,失脂血症,肝硬化症) 和自身免疫标志物 (低补血症,自身抗体) 的高患病率.
结论:
- BSS通常始于童年,并与自身免疫性疾病有关.
- 皮肤厚度和DXA扫描是有用的诊断工具.
- C3低补充血和自身抗体可以支持诊断,尽管低补充血的患病率可能低于此前所认为的.
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