Kampmann Christoph, Wiethoff Christiane M, Huth Ralf G, Staatz Gundula, Mengel Eugen, Beck Michael, Gehring Stefan, Mewes Torsten, Abu-Tair Tariq
Center for Diseases in Childhood and Adolescence and Villa Metabolica, Mainz Medical University, Mainz, Germany.
Zentrum für Kinder- und Jugendmedizin, Universitätsmedizin Mainz, Langenbeckstrasse 1, 55131, Mainz, Germany.
JIMD Rep. 2017;33:33-39. doi: 10.1007/8904_2016_578. Epub 2016 Jul 22.
Several different lysosomal storage diseases, mainly mucopolysaccharidosis (MPS) type I, II, and VI, are complicated by severe obstruction of the upper airways, tracheobronchial malacia, and/or stenosis of the lower airways. Although enzyme replacement therapies (ERTs) are available, the impact of these on tracheobronchial alterations has not been reported. By extending the life expectancy of MPS patients with ERTs, airway problems may become more prevalent at advanced ages. These airway abnormalities can result in severe, potentially fatal, difficulties during anesthetic procedures. Usually, upper airway obstruction is treated by tracheostomy. However, with lower airway malacia and/or stenosis, there are no procedures available to date to address these difficulties. We report the first cases using a new technique of tracheal stenting in patients with MPS type VI (Maroteaux-Lamy syndrome) and type II (Hunter syndrome) who had almost complete tracheal occlusion and total airway collapse. An updated literature review is also reported.
几种不同的溶酶体贮积症，主要是黏多糖贮积症（MPS）I型、II型和VI型，会并发上呼吸道严重梗阻、气管支气管软化和/或下呼吸道狭窄。尽管有酶替代疗法（ERT），但这些疗法对气管支气管改变的影响尚未见报道。通过ERT延长MPS患者的预期寿命，气道问题在老年时可能会变得更加普遍。这些气道异常可导致麻醉过程中出现严重的、可能致命的困难。通常，上呼吸道梗阻通过气管造口术治疗。然而，对于下气道软化和/或狭窄，迄今为止尚无可用的治疗方法来解决这些难题。我们报告了首例在患有几乎完全气管闭塞和全气道塌陷的VI型MPS（马罗托-拉米综合征）和II型MPS（亨特综合征）患者中使用气管支架置入新技术的病例。同时还报告了最新的文献综述。
