Doherty Caitlin, Kubaski Francyne, Tomatsu Shunji, Shaffer Thomas H
University of Delaware, Newark, DE, USA.
Department of Biological Sciences, University of Delaware, Newark, DE, USA.
J Rare Dis Res Treat. 2017;2(2):55-62.
Morquio patients, in many cases, present with severe tracheal narrowing and restrictive lung problems making them susceptible to high mortality arising from sleep apnea and related complications. Tracheal obstruction with growth imbalance, short neck, adeno and tonsillar hypertrophy, large mandible, and/or pectus carinatum also contributes to the challenges in managing the airway with intubation and extubation due to factors intrinsic to Morquio syndrome. Taken together, these issues lead to serious respiratory distress and life-threatening complications during anesthetic procedures. Furthermore, patients with Morquio syndrome frequently cannot perform standard pulmonary function tests as a result of their distinctive skeletal dysplasia and chest deformity, thus making diagnosis of incipient pulmonary disease difficult. In many cases, conventional spirometry is too difficult for patients to complete, deriving from issues with cooperation or clinical circumstance. Therefore, it is an unmet challenge to assess pulmonary insufficiency with standard pulmonary function test (PFT) with minimal effort. Non-invasive PFT such as respiratory inductance plethysmography, impulse oscillometry system, and pneumotachography were described in Morquio patients as compared with spirometry. Findings from our previous study indicate that these non-invasive tests are a reliable approach to evaluate lung function in a larger range of patients, and provide valuable clinical information otherwise unobtainable from invasive tests. In conclusion, the present study describes the utility of non-invasive (PFT) to accommodate a broad range of patients including intolerance to effort-dependent PFT.
在许多情况下，黏多糖贮积症IV型患者存在严重的气管狭窄和限制性肺部问题，这使他们易因睡眠呼吸暂停及相关并发症而面临高死亡率。由于黏多糖贮积症IV型的内在因素，生长失衡、短颈、腺样体和扁桃体肥大、下颌骨大及/或鸡胸导致的气管阻塞也给气管插管和拔管的气道管理带来挑战。综上所述，这些问题在麻醉过程中会导致严重的呼吸窘迫和危及生命的并发症。此外，由于其独特的骨骼发育异常和胸部畸形，黏多糖贮积症IV型患者常常无法进行标准的肺功能测试，因此难以诊断早期肺部疾病。在许多情况下，传统的肺活量测定法对患者来说太难完成，这源于合作问题或临床情况。因此，以最小的努力通过标准肺功能测试（PFT）评估肺功能不全是一项尚未解决的挑战。与肺活量测定法相比，呼吸感应体积描记法、脉冲振荡法系统和呼吸流速描记法等无创PFT已在黏多糖贮积症IV型患者中有所描述。我们之前研究的结果表明，这些无创测试是评估更广泛患者肺功能的可靠方法，并提供了从有创测试中无法获得的有价值的临床信息。总之，本研究描述了无创（PFT）在适应包括不耐受依赖用力的PFT在内的广泛患者方面的效用。
