Department of Endocrinology and Metabolism, Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Affiliated Hospital of China Medical University, Shenyang, China.
Department of Endocrinology, General Hospital of Northern Theater Command of Chinese People's Liberation Army, Shenyang, China.
J Diabetes Investig. 2022 Mar;13(3):592-598. doi: 10.1111/jdi.13682. Epub 2021 Oct 27.
Werner syndrome is a rare autosomal recessive premature progeroid syndrome caused by mutations in the WRN gene. It is characterized by early onset of age-related diseases, such as cataracts, atherosclerosis, diabetes mellitus, osteoporosis and malignancies, in which diabetes often onset in patients' 30-40s. Herein, we report a Chinese patient with Werner syndrome with uncommon early-onset diabetes at 18 years-of-age, who had low body mass index, insulin resistance, negative antibodies of diabetes and early onset of cataracts. Genome sequencing and reverse transcription polymerase chain reaction confirm the diagnosis. A novel heterozygous splice-site mutation in the WRN gene (c.1270-2A>T) was identified. The present case reminds clinicians that when young diabetes patients are encountered, if they are accompanied by premature aging, attention should be paid to identifying the possibility of Werner syndrome based on diagnostic criteria.
Werner 综合征是一种罕见的常染色体隐性遗传早发性进行性衰老综合征，由 WRN 基因突变引起。其特征是早发与年龄相关的疾病，如白内障、动脉粥样硬化、糖尿病、骨质疏松症和恶性肿瘤，其中糖尿病常发生在患者 30-40 多岁时。在此，我们报告一例中国 Werner 综合征患者，其在 18 岁时即出现罕见的早发性糖尿病，该患者体重指数低、存在胰岛素抵抗、糖尿病抗体阴性且白内障早发。基因测序和逆转录聚合酶链反应（reverse transcription polymerase chain reaction）确认了诊断。在 WRN 基因中发现了一种新的杂合剪接位点突变（c.1270-2A>T）。本病例提醒临床医生，当遇到年轻的糖尿病患者时，如果伴有早衰，应根据诊断标准注意识别 Werner 综合征的可能性。
