Abstract:
BACKGROUND:Obstructive sleep apnea syndrome (OSAS) is very common in mucopolysaccharidosis I (MPS I). Hematopoietic stem cell transplantation (HSCT) is the preferred treatment for patients with severe MPS I diagnosed early in life. The protective effect of HSCT on the development of long term OSAS is not known. METHODS:Overnight polysomnography (PSG) and biomarker data were analyzed during the annual follow-up in consecutive MPS I patients treated with HSCT. RESULTS:The data of 13 patients (6 boys) were analyzed. Median age at HSCT was 17 (range 14-19) months, median age at PSG was 9.0 (4.5-14.5) years, and median time elapsed since HSCT was 7.6 (2.4-13.2) years. A significant correlation was observed between time elapsed since HSCT and the apnea-hypopnea index (AHI, r(2)=0.493, p=+0.003) and the oxygen desaturation index (r(2)=0.424, p=+0.02). Patients older than 10 years of age had a higher mean AHI (25.8/h vs 1.4/h, p=0.0008), a lower mean pulse oximetry (94.7% vs 97.2%, p=0.01) and a higher mean hypopnea index (18.8 vs 0.71/h, p=0.016) as compared to those younger than 10 years of age. No correlation was observed between the AHI and the metabolic clearance, assessed by urine glycosaminoglycan (GAG) excretion and residual enzyme activity, although there was a positive trend for the urinary GAG/higher normal value for age ratio (p=0.09). CONCLUSION:HSCT does not offer long term protection against OSAS in MPS I with OSAS being documented in all patients after a time elapse since HSCT exceeding 10 years. The potential benefit of additional enzyme replacement therapy needs to be assessed.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Moreau J,Brassier A,Amaddeo A,Neven B,Caillaud C,Chabli A,Fernandez-Bolanos M,Olmo J,Valayannopoulos V,Fauroux Bdoi
10.1016/j.ymgme.2015.10.004subject
Has Abstractpub_date
2015-12-01 00:00:00pages
275-80issue
4eissn
1096-7192issn
1096-7206pii
S1096-7192(15)30062-7journal_volume
116pub_type
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