A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome.

JCEM case reports Pub Date : 2025-04-10 eCollection Date: 2025-05-01 DOI:10.1210/jcemcr/luaf061
Kenan Sakar, Baris Akinci, Ilgin Yildirim Simsir, Tahir Atik, Gulhan Akbaba, Nese Cinar
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Abstract

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.

一个罕见的急性胰腺炎的原因:两个兄弟姐妹与维尔纳综合征。
脂肪营养不良症是一种罕见的疾病,其特征是身体脂肪的减少导致瘦素缺乏。患者易发生代谢并发症,如严重胰岛素抵抗、高甘油三酯血症和肝脂肪变性。在脂肪营养不良分类中,Werner综合征(WS)属于类早衰综合征。在本病例报告中,我们描述了两个兄弟姐妹。在第一例病例中,当患者出现急性胰腺炎和高甘油三酯血症时,怀疑脂肪营养不良,并确诊为WS。随后,对患者患有早发性糖尿病的姐姐进行遗传筛查,也发现了WS。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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