Kenan Sakar, Baris Akinci, Ilgin Yildirim Simsir, Tahir Atik, Gulhan Akbaba, Nese Cinar
{"title":"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。","authors":"Kenan Sakar, Baris Akinci, Ilgin Yildirim Simsir, Tahir Atik, Gulhan Akbaba, Nese Cinar","doi":"10.1210/jcemcr/luaf061","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":73540,"journal":{"name":"JCEM case reports","volume":"3 5","pages":"luaf061"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982666/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome.\",\"authors\":\"Kenan Sakar, Baris Akinci, Ilgin Yildirim Simsir, Tahir Atik, Gulhan Akbaba, Nese Cinar\",\"doi\":\"10.1210/jcemcr/luaf061\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":73540,\"journal\":{\"name\":\"JCEM case reports\",\"volume\":\"3 5\",\"pages\":\"luaf061\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11982666/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JCEM case reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1210/jcemcr/luaf061\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/5/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JCEM case reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1210/jcemcr/luaf061","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome.
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.