Dowton S B, Pincott S, Demmer L
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Clin Genet. 1996 Dec;50(6):510-4. doi: 10.1111/j.1399-0004.1996.tb02724.x.
Pulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. At age 20.5 years the patient, who had previously suffered a spontaneous colonic perforation, developed intermittent recurrent hemoptysis and had a spontaneous hemopneumothorax. At presentation, imaging studies revealed multiple scattered cavitary lesions in both lungs. On separate occasions large parenchymal cysts ensued and subsequently regressed. Reviews of other reported patients indicate that pulmonary complications do occur in patients with Ehlers-Danlos syndrome type IV but have not resulted directly in patient mortality.
通过对胶原蛋白生物合成的研究确诊的一名IV型埃勒斯-丹洛斯综合征患者出现了肺部并发症。该患者20.5岁，此前曾发生自发性结肠穿孔，出现间歇性反复咯血，并发生了自发性血气胸。就诊时，影像学检查显示双肺有多个散在的空洞性病变。在不同时间出现了大的肺实质囊肿，随后消退。对其他报道患者的回顾表明，IV型埃勒斯-丹洛斯综合征患者确实会出现肺部并发症，但尚未直接导致患者死亡。
