Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment

• Published in: Pediatric pulmonology 2014-03, Vol.49 (3), p.277-284
• Main Authors: Lin, Shuan-Pei, Shih, Shou-Chuan, Chuang, Chih-Kuang, Lee, Kuo-Sheng, Chen, Ming-Ren, Niu, Dau-Ming, Chiu, Pao Chin, Lin, Shio Jean, Lin, Hsiang-Yu
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Age Factors; Child; Disease Progression; enzyme replacement therapy; Enzyme Replacement Therapy - methods; Female; Forced Expiratory Volume; glycosaminoglycans; Humans; Lung - physiopathology; Lung Diseases - etiology; Lung Diseases - physiopathology; Lung Diseases, Obstructive - etiology; Lung Diseases, Obstructive - physiopathology; Male; Maximal Midexpiratory Flow Rate; mucopolysaccharidoses; Mucopolysaccharidoses - complications; Mucopolysaccharidoses - drug therapy; Mucopolysaccharidoses - physiopathology; Mucopolysaccharidosis I - complications; Mucopolysaccharidosis I - drug therapy; Mucopolysaccharidosis I - physiopathology; Mucopolysaccharidosis II - complications; Mucopolysaccharidosis II - drug therapy; Mucopolysaccharidosis II - physiopathology; Mucopolysaccharidosis III - complications; Mucopolysaccharidosis III - drug therapy; Mucopolysaccharidosis III - physiopathology; Mucopolysaccharidosis IV - complications; Mucopolysaccharidosis IV - drug therapy; Mucopolysaccharidosis IV - physiopathology; Mucopolysaccharidosis VI - complications; Mucopolysaccharidosis VI - drug therapy; Mucopolysaccharidosis VI - physiopathology; Peak Expiratory Flow Rate; pulmonary function; Respiratory Function Tests; Severity of Illness Index; Spirometry; Treatment Outcome; Vital Capacity - physiology; Young Adult
• ISSN: 8755-6863; 1099-0496
• DOI: 10.1002/ppul.22774

Background The mucopolysaccharidoses (MPS) comprise a group of inherited lysosomal storage disorders characterized by deficiencies in enzymes catalyzing the degradation of glycosaminoglycans. Impairment of pulmonary function is an important health problem for patients with MPS. However, there are few published reports on the prevalence and severity of pulmonary dysfunction in relation to age and treatment in this disorder. Methods To evaluate pulmonary function in patients with MPS, we performed spirometry in 35 patients (22 males and 13 females; 1 with MPS I, 12 with MPS II, 16 with MPS IVA, and 6 with MPS VI; mean age, 14.6 ± 5.9 years; age range, 6.4 years to 33 years). Forced vital capacity (FVC), forced expired volume in 1 sec (FEV1), FEV1 to FVC ratio (FEV1/FVC), peak expiratory flow (PEF), and mean forced expiratory flow during the middle half of FVC (FEF25–75%) were measured. Results Mean FVC, FEV1, PEF, and FEF25–75% were 74.2%, 73.9%, 64.7%, and 37.1% of the predicted values, respectively. By spirometric classification, 32 patients (91%) had small airway disease (FEF25–75%