文献简介

出版社:BMJ Case Rep

作  者:A R Hurtarte Sandoval, J D Penate Dardón, B J Flores Robles,S Porres

编  号:10.1136/bcr-2013-200931

关键字:

年  份:2013   点击量:573

文献摘要


Abstract:
Werner’s syndrome (WS) is a rare autosomal recessive disorder, characterised by skin changes prematurely during adolescence. An unusual case of WS was found in a 27-year-old pregnant woman who presented to the hospital with a history of uncontrolled hypertension at 32 weeks of gestation. All clinical features corresponding to WS (early aging of skin, hair loss, blurred vision and diabetes type 2) appeared to match with the prospective diagnosis, which was confirmed later with genetic testing. The pregnancy became complicated due to oligohydramnios and therefore a caesarean section was carried out in order to preserve the fetus. Despite all implemented efforts, the patient died intraoperative as a result of cardiac arrest and its complications. Successfully, the newborn survived and it was further investigated to exclude this condition.
摘要:
Werner综合征(WS)是一种罕见的常染色体隐性遗传疾病,以青春期皮肤过早发生衰老为特点。 我们发现了一个WS的异常病例,患者为一位27岁孕妇,在妊娠32周时由于难以控制的高血压病史被送往医院。所有的临床特征均与WS相一致(皮肤提早老化、脱发、视力模糊和2型糖尿病),似乎符合预期诊断,后来经基因检测得到证实。由于羊水过少,妊娠变得复杂,因此采用剖腹产以保护胎儿。尽管尽了所有努力,但由于术中心跳骤停及其并发症患者仍然死亡。新生儿成功存活,并且进行了进一步研究以排除这种情况。