Respiratory system impairments in children with mucopolysaccharidoses: Hurler and Hunter syndromes

Background: mucopolysaccharidoses are rare genetic storage diseases with deficient activity of lysosomal enzymes. Patients with mucopolysaccharidoses have multiorgan pathology, including respiratory system impairment. It is important to complex elucidate respiratory problems in children with mucopolysaccharidoses. Aim: evaluate respiratory symptoms in children with Hurler and Hunter syndromes. Methods: we observed 70 children with mucopolysaccharidoses: 14 with Hurler syndrome and 56 with Hunter syndrome. Age from 6 mo to 16 yrs, follow up 5 yrs. Results: chronic cough was presented in 18 (3 children with Hurler syndrome; 15- with Hunter syndrome), recurrent pneumonias caused mainly by chronic aspiration in 22 (7 and 5 accordingly); noisy breathing – in 45 (12 and 13 accordingly); obstructive sleep apnea (OSA) – in 41 (12 and 29). All children with Hurler syndrome and noisy breathing had OSA, but from 33 children with Hunter syndrome and noisy breathing OSA was observed in 29. Severity of OSA depended on severity of neurological disorders (ND) (the more severe ND, the more severe OSA) and on degree of upper airway stenosis caused by glycosaminoglycans storage in tonsils, epiglottis and trachea. Most of the children had chest deformities. Conclusion: Most of children with such severe forms of mucopolysaccharidoses as Hurler and Hunter syndromes have respiratory system impairments and chest deformities. In view of holistic character of respiratory impairments and their crucial influence on patients’ life, there is a need in more studies with multidisciplinary approach in these patients.