高甘油三酯血症
脂肪营养不良
医学
胰岛素抵抗
急性胰腺炎
脂肪变性
糖尿病
胰腺炎
儿科
LMNA公司
内科学
沃纳综合征
内分泌学
甘油三酯
遗传学
精神科
免疫学
生物
人类免疫缺陷病毒(HIV)
拉明
胆固醇
解旋酶
病毒载量
核心
基因
抗逆转录病毒疗法
核糖核酸
作者
Kenan Şakar,Barış Akıncı,İlgın Yıldırım Şimşir,Tahir Atık,Gülhan Akbaba,Nese Cinar
出处
期刊:
日期:2025-03-27
卷期号:3 (5): luaf061-luaf061
标识
DOI:10.1210/jcemcr/luaf061
摘要
Lipodystrophies are rare disorders characterized by loss of body fat resulting in leptin deficiency. Patients are predisposed to metabolic complications such as severe insulin resistance, hypertriglyceridemia, and hepatic steatosis. Werner syndrome (WS) is among the progeroid syndromes in the classification of lipodystrophy. In this case report, we describe two siblings. In the first case, lipodystrophy was suspected when the patient presented with acute pancreatitis and hypertriglyceridemia, and a diagnosis of WS was confirmed. Subsequently, genetic screening of the patient's sister, who had early-onset diabetes, also revealed WS.
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