Abstract
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.
Highlights
Morquio syndrome (Mucopolysaccharidosis IV, MPS IV) is classified into two different autosomal recessive disorders, Morquio syndrome A (MPS IVA) and Morquio syndrome B (MPS IVB), caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) or β-galactosidase (GLB1), respectively[1,2,3,4]
Non-invasive pulmonary function test (PFT) such as respiratory inductance plethysmography, impulse oscillometry system, and pneumotachography were described in Morquio patients as compared with spirometry
Morquio syndrome is characterized by skeletal dysplasia with short stature, spinal cord compression, pectus carinatum, kyphoscoliosis, genu valgum, and pulmonary complications caused by the constant, progressive accumulation of GAG(s) in the lysosomes of bones, cartilage, ligaments, and the extracellular matrix (ECM) (Figure 1)[1,5,6,7,8]
Summary
Morquio syndrome (Mucopolysaccharidosis IV, MPS IV) is classified into two different autosomal recessive disorders, Morquio syndrome A (MPS IVA) and Morquio syndrome B (MPS IVB), caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) or β-galactosidase (GLB1), respectively[1,2,3,4]. Both enzymes are required for the catabolism of glycosaminoglycan(s) (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS) for Morquio syndrome A and KS only for Morquio syndrome B1. GAG deposits are associated with many respiratory manifestations with airway obstruction as the most prominent feature[7,8,12]
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