Type 2 Respiratory Insufficiency, Pulmonary Hypertension, and Obstructive Sleep Apnea Syndrome that Developed in Morquio Syndrome

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dc.contributor.authorGülhan, Pınar Yıldız
dc.contributor.authorEkici, Aydanur
dc.contributor.authorEkici, Mehmet
dc.contributor.authorÇimen, Dilay
dc.date.accessioned2025-01-21T16:34:16Z
dc.date.available2025-01-21T16:34:16Z
dc.date.issued2014
dc.departmentKırıkkale Üniversitesi
dc.description.abstractMucopolysaccharidosis type IVA (Morquio syndrome) is a multisystemic autosomal recessive transitive disease induced by an N-acetylgalactosamine 6 sulfatase (GALNS) gene defect, progressing with lysosomal stock failure. The accumulation of chondroitin 6 sulfate and keratin sulfate is observed in the tissues due to GALNS deficiency. We presented a case in which Morquio syndrome was successfully treated with noninvasive mechanical ventilation in accordance with the literature. The case had obstructive sleep apnea syndrome (OSAS) induced by an obstruction that emerged as a result of type 2 respiratory insufficiency resulting from throcal deformity, inspiratory muscle weakness, pulmonary hypertension, and the accumulation of diffuse mucopolysaccharide in the upper respiratory tract.
dc.identifier.citationGülhan, P. Y., Ekici, A., Ekici, M., Çimen, D. (2014). Type 2 Respiratory Insufficiency, Pulmonary Hypertension, and Obstructive Sleep Apnea Syndrome that Developed in Morquio Syndrome. Solunum, 16(3), 192 - 194.en_US
dc.identifier.doi10.5152/ejp.2014.85579
dc.identifier.endpage194
dc.identifier.issn2148-3620
dc.identifier.issn2148-5402
dc.identifier.issue3
dc.identifier.startpage192
dc.identifier.trdizinid228215
dc.identifier.urihttps://doi.org/10.5152/ejp.2014.85579
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay228215
dc.identifier.urihttps://hdl.handle.net/20.500.12587/23928
dc.identifier.volume16
dc.identifier.wosWOS:000421899100012
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.publisherAves
dc.relation.ispartofEurasian Journal of Pulmonology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241229
dc.subjectMorquio syndrome; respiratory insufficiency; sleep apnea
dc.titleType 2 Respiratory Insufficiency, Pulmonary Hypertension, and Obstructive Sleep Apnea Syndrome that Developed in Morquio Syndrome
dc.typeArticle

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