Sasaki C T, Ruiz R, Gaito R, Kirchner J A, Seshi B
Laryngoscope. 1987 Mar;97(3 Pt 1):280-5.
Hunter's disease is a genetically transmitted defect known to produce mucopolysaccharide infiltration of multiple organ systems. Upper airway obstruction is caused by an enlarged tongue, deformed pharynx, and short, thick neck. Its eventual lethal outcome by the second decade of life is known to result from an infiltrative cardiomyopathy leading to irreversible heart failure. Instead, our recent experience in the care of five patients with this disorder suggests the lethal event is related to progressive obstruction sequentially involving the upper, mid, and lower airway characterized by gradual deformation and collapse of the trachea. Autopsy and histopathologic whole organ sections demonstrate anteroposterior flattening of the trachea and bronchi with submucosal thickening producing structural alterations known only to this disease.
亨特氏病是一种已知会导致多器官系统粘多糖浸润的遗传性缺陷疾病。上呼吸道梗阻是由舌头肿大、咽部畸形以及短而粗的颈部引起的。已知其在生命的第二个十年最终导致致命后果是由于浸润性心肌病导致不可逆转的心力衰竭。然而，我们最近对五名患有这种疾病的患者的护理经验表明，致命事件与上、中、下呼吸道的渐进性梗阻有关，其特征是气管逐渐变形和塌陷。尸检和组织病理学全器官切片显示气管和支气管前后扁平，粘膜下增厚产生仅见于这种疾病的结构改变。
