Miyajima Shinji, Ikeda Tomoya, Goda Kyosuke, Tanaka Yuichi, Takaya Haruo, Sando Takehiro, Hukunaga Toyokazu
Gastroenterology, Kishiwada City Hospital, 1001, Gakuhara-Town, Kishiwada City, Osaka Prefecture, Japan.
Clin J Gastroenterol. 2025 Aug 4. doi: 10.1007/s12328-025-02192-1.
Werner syndrome is a rare progeroid condition caused by a mutation in the WRN gene. It is characterized primarily by premature aging, diabetes mellitus, atherosclerosis, and an increased risk of malignancy. In this case, we present a man in his 40s with liver cirrhosis who was subsequently diagnosed with Werner syndrome. Shortly afterwards, he developed refractory ascites and a non-healing ulcer on his left big toe and ultimately died of liver failure. Despite having only mild fatty liver disease and being of normal weight, his liver became cirrhotic within a little over 4 years. Although a liver biopsy was not performed, the presumed etiology of his liver cirrhosis was non-alcoholic fatty liver disease (NAFLD) due to fatty liver disease. This case report highlights the importance of considering Werner syndrome in the differential diagnosis of fatty liver, particularly in the absence of obesity, as it can lead to the rapid progression of NAFLD-related liver cirrhosis.
沃纳综合征是一种由WRN基因突变引起的罕见类早衰病症。其主要特征为早衰、糖尿病、动脉粥样硬化以及患恶性肿瘤风险增加。在此病例中，我们报告一名40多岁患肝硬化的男性，随后被诊断为沃纳综合征。不久后，他出现难治性腹水和左大脚趾不愈合溃疡，最终死于肝功能衰竭。尽管他仅有轻度脂肪性肝病且体重正常，但在4年多一点的时间里肝脏就发展为肝硬化。虽然未进行肝活检，但鉴于其脂肪性肝病，推测其肝硬化的病因是非酒精性脂肪性肝病（NAFLD）。本病例报告强调了在脂肪肝鉴别诊断中考虑沃纳综合征的重要性，尤其是在无肥胖的情况下，因为它可导致NAFLD相关肝硬化的快速进展。
