Amalnath S Deepak, Sargolzaeiaval Forough, Oshima Junko, Baskar Dipti
Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri Nagar, Gorimedu, Puducherry, 605 006, India.
Department of Pathology, University of Washington, Seattle, WA, 98195, USA.
Indian J Gastroenterol. 2017 Jul;36(4):323-325. doi: 10.1007/s12664-017-0781-1. Epub 2017 Aug 9.
Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome. Further genetic analysis showed a novel mutation in the WRN gene which has not previously been reported. Werner syndrome should be considered for the cases of liver cirrhosis when accompanied by the features of accelerated aging.
沃纳综合征是一种由WRN基因突变引起的罕见早衰综合征。其特征为普遍出现早衰、糖尿病和动脉粥样硬化，以及患恶性肿瘤的风险增加。我们报告了一名因肝硬化出现呕血症状的患者，随后被诊断为沃纳综合征。进一步的基因分析显示WRN基因存在一种此前未被报道的新突变。对于伴有加速衰老特征的肝硬化病例，应考虑沃纳综合征。
