Challenges in the management of mucopolysaccharidosis Type II (Hunter’s Syndrome) in a developing country: a case report.
dc.contributor.author | Ibraheem, Rasheedat | |
dc.contributor.author | Oladele, Patrick | |
dc.contributor.author | Abdulazeez, A | |
dc.contributor.author | Abdulkadir, M | |
dc.contributor.author | Katibi, S | |
dc.contributor.author | Ibraheem, G | |
dc.date.accessioned | 2018-06-19T11:04:50Z | |
dc.date.available | 2018-06-19T11:04:50Z | |
dc.date.issued | 2015-07 | |
dc.description.abstract | BACKGROUND: Mucopolysaccharidosis type II (Hunter's syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could contribute to an increased morbidity as identified in this case report. CASE DETAILS: An eight year old patient with Hunter's syndrome identified five years after disease onset with severe cardiovascular complications exemplifies the challenges faced in resource-limited countries towards making diagnosis and treatment of rare conditions. Elevated urinary glycosaminoglycans levels or a strong clinical suspicion of Hunter's syndrome, as identified in the index case, is a prerequisite for enzyme activity testing. Urinary mucopolysaccharide(MPS) level was 69.6 mg/mmol(normal range is 0.0 - 11.6 mg/mmol), and the confirming MPS electrophoresis analysis showed elevated heparan sulphate in the urine sample. Enzyme activity testing, with absent or very low iduronate-2-sulfatase activity, is diagnostic. However, the scarce availability and high cost of these tests is another constraint in making a diagnosis. CONCLUSION: Identification and management of mucopolysaccharidosis type II pose a problem in resource-constrained countries due to late presentation, lack of facility for diagnosis and treatment, cost and expertise required for the management. | en_US |
dc.identifier.citation | Ibraheem, R., Oladele, P., Abdulazeez, A., Abdulkadir, M.B., Katibi, S. & Ibraheem, G. (2015): Challenges in the management of mucopolysaccharidosis Type II (Hunter’s Syndrome) in a developing country: a case report. Ethiopian Journal of Health Sciences. 25(3); 279-282 | en_US |
dc.identifier.uri | http://dx.doi.org/10.4314/ejhs.v25i3.12 | |
dc.identifier.uri | http://hdl.handle.net/123456789/521 | |
dc.language.iso | en | en_US |
dc.publisher | College of Health Sciences, Jimma University, Ethiopia | en_US |
dc.subject | Hunter's syndrome; | en_US |
dc.subject | Mucopolysaccharide; | en_US |
dc.subject | Mucopolysaccharidosis | en_US |
dc.title | Challenges in the management of mucopolysaccharidosis Type II (Hunter’s Syndrome) in a developing country: a case report. | en_US |
dc.type | Article | en_US |
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