Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

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dc.contributor.authorCanda, Ebru
dc.contributor.authorYazici, Havva
dc.contributor.authorEr, Esra
dc.contributor.authorEraslan, Cenk
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T10:42:04Z
dc.date.available2019-10-27T10:42:04Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractAim: Mucopolysaccharidosis Type IVA(MPS IVA), Morquio A, is caused by the deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase. Multisystemic involvements include skeletal systems, pulmonary disease, valvular heart disease, hearing loss, mild hepatomegaly, corneal clouding, coarse facial features. Materials and Methods: We retrospectively analyzed clinical and laboratory and follow up findings of our 25 patients with ministry for primary industries independent verification agency. Results: Mean age of the patients was 14.9 +/- 7.05 (5.5-36 years). Mean age at diagnosis was 7.3 +/- 6.2 years (6 months-31 years). Female: male ratio was 13/12. All patients had skeletal manifestation and X-ray analysis demonstrated "dysostosis multiplex". Twelve patients (48%) had cardiac valve disease. Twenty three (92%) patients had corneal clouding, 15(60%) patients had hearing loss and 9(36%) had hepatomegaly. Six (24%) patients were unable to walk Mean follow up period is 7.4 years +/- 3.5 years (3 months-17 years). Four patients have not visit our clinical for last >= 3 years. Three patients died during follow-up. Conclusion: MPS IVA is a severe disorder and is usually fatal in the second or third decade of life due to the complications of the disease. Early diagnosis of the patient became more important, because specific therapy with elasulphase alpha was approved recent years ago.en_US
dc.identifier.doi10.4274/jpr.52244
dc.identifier.endpage33en_US
dc.identifier.issn2147-9445
dc.identifier.issn2147-9445en_US
dc.identifier.issue1en_US
dc.identifier.startpage28en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.52244
dc.identifier.urihttps://hdl.handle.net/11454/30603
dc.identifier.volume5en_US
dc.identifier.wosWOS:000436882600007en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMPS IVAen_US
dc.subjectMorquio Aen_US
dc.subjectdysostosis multiplexen_US
dc.subjectcardiac valveen_US
dc.subjectcorneal cloudingen_US
dc.titleClinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experienceen_US
dc.typeArticleen_US

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