临床特征,代谢和自身免疫乱在获得的局部脂质变 (巴拉克尔-西蒙斯综合征) 中
Chatchon Kaewkrasaesin1,2, Michael Hwang3, Chandna Vasandani1
1The Section of Nutrition and Metabolic Diseases, Division of Endocrinology, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
The Journal of clinical endocrinology and metabolism
|May 28, 2025
概括
获得的局部脂质缩症 (APL) 患者面临高风险的代谢问题,如糖尿病和脂肪肝,和眼睛的条件,如drusen. 低补充C3水平与这些APL并发症的早期发病有关.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 眼科医生 眼科 眼科
背景情况:
- 获得性局部脂质缩 (APL) 是一种罕见的疾病,导致皮下脂肪的损失,主要影响脸部,部,干部和上肢.
- 在APL患者中代谢障碍和相关并发症的患病率尚不清楚.
研究的目的:
- 研究一大批APL患者的临床特征,代谢障碍和自身免疫性并发症.
- 确定C3低补充血症与APL中的代谢并发症和眼部发现的发生之间的关联.
主要方法:
- 这是一项前性观察性研究,涉及86名来自美国两个主要转诊中心的APL患者 (77名女性,9名男性).
- 系统地收集和分析人口统计,病史和实验室数据在初始评估和后续.
主要成果:
- 发病APL的中位数年龄为7岁. 观察到伴随性疾病的高发病率:15%为自身免疫性疾病,38%为糖尿病或葡萄糖不耐受,43%为高三糖血症,61%为脂肪肝或与代谢功能障碍相关的脂肪肝炎 (MASH).
- 71%的患者有低血清补充C3 (低补充血). 德鲁森在62%的检查患者中存在. C3低补充血症与早期出现的DM/葡萄糖不耐受性 (36岁与56.5岁) 和高甘油三血症 (30岁与48岁) 相关.
结论:
- 患有APL的患者表现出代谢并发症和眼部表现的显著风险,如drusen.
- 在APL患者中,C3低补充血与较早出现的代谢并发症有关,这突显了它在疾病进展中的作用.
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