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.authorYazıcı, Havva
dc.contributor.authorEr, Esra
dc.contributor.authorEraslan, Cenk
dc.contributor.authorUçar, Sema Kalkan
dc.contributor.authorÇoker, Mahmut
dc.date.accessioned2020-12-01T12:32:53Z
dc.date.available2020-12-01T12:32:53Z
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.issn2587-2478
dc.identifier.issue1 özelen_US
dc.identifier.startpage28en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.52244
dc.identifier.urihttps://app.trdizin.gov.tr//makale/TXpBME5ESTFOUT09
dc.identifier.urihttps://hdl.handle.net/11454/66379
dc.identifier.volume5en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofThe Journal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPediatrien_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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