Evaluation of sleep‐disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI

Autor: Kismet Ciki, Ismail Guzelkas, Halime Nayir Buyuksahin, Dilber Ademhan Tural, Nagehan Emiralioglu, Birce Sunman, Kübra Kılıç, Deniz Dogru, Ugur Ozcelik, Beste Ozsezen, Omer Faruk Ipek, Nural Kiper, Ebru Yalcin, Serap Sivri, Naciye Vardar Yagli
Rok vydání: 2021
Předmět:
Male
0301 basic medicine
congenital
hereditary
and neonatal diseases and abnormalities
medicine.medical_specialty
Vital capacity
Central sleep apnea
Adolescent
Polysomnography
030105 genetics & heredity
Severity of Illness Index
Pulmonary function testing
03 medical and health sciences
FEV1/FVC ratio
Sleep Apnea Syndromes
Internal medicine
Prevalence
Genetics
medicine
Humans
Enzyme Replacement Therapy
Child
Genetics (clinical)
Retrospective Studies
Sleep Apnea
Obstructive
medicine.diagnostic_test
business.industry
Age Factors
Infant
Newborn
Infant
Mucopolysaccharidosis IV
nutritional and metabolic diseases
Sleep apnea
Enzyme replacement therapy
medicine.disease
Respiratory Function Tests
respiratory tract diseases
Obstructive sleep apnea
Cross-Sectional Studies
030104 developmental biology
Child
Preschool
Cardiology
Female
Disease Susceptibility
Blood Gas Analysis
business
Biomarkers
Zdroj: American Journal of Medical Genetics Part A. 185:2306-2314
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.62229
Popis: The aims of the study were to evaluate the prevalence of sleep-disordered breathing (SDB) by using polysomnography (PSG) in children with MPS IVA and MPS VI who underwent enzyme replacement therapy (ERT) and to analyze the effect on SDB of having upper airway surgery, pulmonary functions, and exercise capacity. A retrospective cross-sectional study was conducted on patients with MPS IVA (n:17) and MPS VI (n:11) aged under 19 years who underwent polysomnography. Descriptive and nonparametric analyses were performed for demographic, PSG, pulmonary function and exercise capacity variables. The frequency of sleep apnea in the study sample was 85.7% (24/28). Four patients (14.3%) had no sleep apnea, 15 (53.6%) had mild, and nine (32.1%) had moderate-to-severe sleep apnea. Two patients (7.1%) had central sleep apnea and 22 had obstructive sleep apnea (OSA) (78.6%). Forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were negatively correlated to apnea-hypopnea index (AHI) (r = -0.594, p = .009; r = -0.636, p = .005, respectively). Despite ERT and previous upper airway surgery, the prevalence of OSA was high in patients with MPS IVA-MPS IV, emphasizing the importance of PSG screening for sleep disorders. Pulmonary function tests may be useful for predicting sleep apnea in patients with MPS IVA and MPS VI.
Databáze: OpenAIRE
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