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Pregnancy complicated by Werner syndrome.

机译:妊娠并发维尔纳综合征。

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Werner syndrome, also known as 'adult progeria' is a very rare autosomal recessive genetic disorder of accelerated aging with incidence ranging from 1 in 100,000 to 1 in 1,000,000 cases. It is related to a mutation of the WRN gene, which encodes DNA helicase-like protein. A variety of diseases associated with aging, including preterm atherosclerosis with concomitant circulation disorders, venosclero-sis, type 2 diabetes, cataract, skin ulcerations (especially at the ankles and tarsal joints) and sclerodermal skin lesions, are characteristic of Werner syndrome. Moreover, the patient's appearance is characteristic: they possess a short stature, small face with large unusually prominent eyes, small jaw, frequently with tooth loss, alopecia, prominent veins, particularly on the scalp, short and broad nails, short and pointed distal phalanges (acroostyleosis), and stiffness of the lower limbs with contractured knees. The initial clinical symptoms of premature aging appear during puberty, when no pubescent acceleration of growth occurs (1). The average life expectancy for patients with Werner's syndrome is around 45 years. Due to under-development of the genital organs, pregnancy in Werner syndrome patients is extremely rare. Even rarer are cases of pregnancy where living, healthy newborns are delivered.
机译:Werner综合征,也称为“成人早衰症”,是一种非常罕见的常态性隐性遗传疾病,加速衰老,发病率在100,000分之一至1,000,000例中。它与WRN基因的突变有关,该基因编码DNA解旋酶样蛋白。 Werner综合征的特征是多种与衰老相关的疾病,包括伴有循环系统疾病的早发性动脉粥样硬化,静脉硬化,2型糖尿病,白内障,皮肤溃疡(尤其是在踝关节和关节)和硬皮皮肤病变。此外,患者的外貌具有特征:身材矮小,脸庞小,眼睛大而突出,下巴小,经常掉牙,脱发,静脉突出,尤其是在头皮上,指甲短而宽,远端指骨短而尖(肢端肥大症)和膝盖收缩的下肢僵硬。过早衰老的最初临床症状是在青春期出现的,这时没有青春期的生长加速发生(1)。沃纳综合症患者的平均预期寿命约为45岁。由于生殖器官发育不足,沃纳综合症患者的妊娠极为罕见。甚至更少见的是怀孕,分娩,健康的新生儿分娩的情况。

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