Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience
Aim: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, coars...
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Galenos Yayinevi
2018-03-01
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doaj-d5c3fa2698744a2ea52a55a6f5e731fb2020-11-24T22:13:27ZengGalenos YayineviJournal of Pediatric Research2147-94452587-24782018-03-0151283310.4274/jpr.5224413049054Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center ExperienceEbru Canda0Havva Yazıcı1Esra Er2Cenk Eraslan3Sema Kalkan Uçar4Mahmut Çoker5 Ege University Faculty of Medicine, Department of Pediatric, Division of Pediatrics Metabolism and Nutrition, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatric, Division of Pediatrics Metabolism and Nutrition, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatric, Division of Pediatrics Metabolism and Nutrition, İzmir, Turkey Ege University Faculty of Medicine, Department of Radiology, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatric, Division of Pediatrics Metabolism and Nutrition, İzmir, Turkey Ege University Faculty of Medicine, Department of Pediatric, Division of Pediatrics Metabolism and Nutrition, İzmir, Turkey Aim: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. http://jpedres.org/archives/archive-detail/article-preview/clinical-presentation-and-follow-up-of-patients-wi/18764 MPS IVAMorquio Adysostosis multiplexcardiac valvecorneal clouding |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ebru Canda Havva Yazıcı Esra Er Cenk Eraslan Sema Kalkan Uçar Mahmut Çoker |
spellingShingle |
Ebru Canda Havva Yazıcı Esra Er Cenk Eraslan Sema Kalkan Uçar Mahmut Çoker Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience Journal of Pediatric Research MPS IVA Morquio A dysostosis multiplex cardiac valve corneal clouding |
author_facet |
Ebru Canda Havva Yazıcı Esra Er Cenk Eraslan Sema Kalkan Uçar Mahmut Çoker |
author_sort |
Ebru Canda |
title |
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience |
title_short |
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience |
title_full |
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience |
title_fullStr |
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience |
title_full_unstemmed |
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience |
title_sort |
clinical presentation and follow up of patients with mucopolysaccharidosis type iva (morquio a disease): single center experience |
publisher |
Galenos Yayinevi |
series |
Journal of Pediatric Research |
issn |
2147-9445 2587-2478 |
publishDate |
2018-03-01 |
description |
Aim: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. |
topic |
MPS IVA Morquio A dysostosis multiplex cardiac valve corneal clouding |
url |
http://jpedres.org/archives/archive-detail/article-preview/clinical-presentation-and-follow-up-of-patients-wi/18764
|
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