Polysomnographic characteristics in patients with mucopolysaccharidoses.

摘要

To evaluate the prevalence of obstructive sleep apnea (OSA) and to clarify sleep characteristics in patients with mucopolysaccharidoses (MPS), we performed overnight polysomnographic studies in 24 patients (22 males and 2 females; 3 with MPS I, 15 with MPS II, 1 with MPS III, 1 with MPS IV, and 4 with MPS VI; mean age, 10.8 +/- 6.0 years; age range, 2.0-23.7 years; 2 patients >/=18 years of age). The nadir arterial oxygen saturation (SaO(2) ) was 74.5 +/- 12.3%, and the average percentage of sleep time with an SaO(2) of <95% was 39.4%. The percentages of total sleep time spent in sleep stages N1, N2, N3, and R were 18.6 +/- 10.8%, 50.3 +/- 7.6%, 14.8 +/- 8.1%, and 15.3 +/- 4.6%, respectively. The respiratory disturbance index (RDI) was 21.8 +/- 20.4/hr, and obstructive apnea-hypopnea index (OAHI) and central apnea index were 21.4 +/- 19.9/hr and 0.4 +/- 0.6/hr, respectively. The desaturation index was 17.6 +/- 17.8/hr. All patients had some degree of OSA. For 22 children, the disorder was mild (OAHI 1.5-5) in 2, moderate (OAHI 5-10) in 7, and severe (OAHI > 10) in 13. Two patients with MPS II who received enzyme replacement therapy had reductions in RDI after treatment (38.9-10.8 and 3.5-2.0, respectively). The prevalence of moderate to severe OSA was 88% (21/24) in patients with MPS. The overnight polysomnography will help to determine the abnormalities of breathing during sleep more precisely and urge the clinicians to take necessary action for patients with severe manifestations.