Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

Amaç & Hipotez:Aim: Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase(IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides.

📊

Temel Bulgular & Veri:The purpose of this study is to present the clinical, biochemical and molecular characteristicsof fifteen patients with MPS II in western Turkey.Materials and Methods: A retrospective study was carried out on fifteen patients with MPS II who were followed up by Ege University Faculty of Medicine, Unit ofPediatric Metabolic Diseases and Nutrition between October 2004 and September 2017.Results: The age range of the patients enrolled in the study was between 11 months and 318 months at the time of diagnosis.

💡

Sonuç & Katkı:The molecular analysis revealed one novel mutation.

🔬Tür:Araştırma Makalesi

📍Kapsam:2004 Verileri

⚙️Değişkenler:Alan Parametreleri

Özet

Aim: Mucopolysaccharidosis Type II (MPS II, Hunter syndrome, OMIM 309900) is a rare X-linked lysosomal storage disease due to a deficiency of the iduronate-2-sulfatase(IDS) enzyme, which is one of the degradative enzymes of mucopolysaccharides. The purpose of this study is to present the clinical, biochemical and molecular characteristicsof fifteen patients with MPS II in western Turkey.Materials and Methods: A retrospective study was carried out on fifteen patients with MPS II who were followed up by Ege University Faculty of Medicine, Unit ofPediatric Metabolic Diseases and Nutrition between October 2004 and September 2017.Results: The age range of the patients enrolled in the study was between 11 months and 318 months at the time of diagnosis. The most common symptom was coarse face.On physical examination, all of the patients presented with coarse face, macrocephaly and organomegaly. Except for one patient, all other were severe phenotype. IDS activitywas significantly decreased in all patients in whom enzyme analysis was performed. In this study, one novel mutation was described.Conclusion: This is the first study on the clinical and molecular characterization of Turkish MPS II patients. The majority of the patients had neurologic involvement withdifferent degrees of severity. The molecular analysis revealed one novel mutation.

🔖

Bu Makaleye Atıf Yap

YAZICI, H., CANDA, E., ER, E., UÇAR, S. K., ONAY, H., ÖZKINAY, F. F., ÇOKER, M. (2018). Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey. The Journal of Pediatric Research, Cilt: 5 - Sayı: 1, 34–38. https://ajindex.com/articles/362762

📄 Tam Metin PDF Okuyucu

Yeni Sekmede Aç ↗

↗Yeni Sekme

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (7)

Guillén-Navarro E, Domingo-Jiménez MR, Alcalde-Martín C, et al. Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study Orphanet J Rare Dis 2013;8:92. Jurecka A, Krumina Z, Żuber Z, et al. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am J Med Genet A 2012;158:450-4.
Parenti G and Wraith EJ. (2014) The Mucopolysaccharidoses. In: Blau N, Duran M, Gibson KM, Dionisi-Vici C (eds) Physician’s Guide to the Diagnosis,Treatment, and Follow-Up of Inherited Metabolic Diseases, Springer, Heidelberg, New York, Dordrecht, London, pp 449-64. Scarpa M. Mucopolysaccharidosis Type II. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N (eds) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. 2007 Nov 6 [updated 2015 Mar 26]. Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr 2012;171:631-9.
Jones S, Wijburg F. Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders. In: Saudubray JM, van den Berghe G, Walter JH (eds) Inborn metabolic diseases, diagnosis and treatment, 6th edn. Springer, Heidelgerg, (2016) pp 577-88.
Wraith JE, Scarpa M, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008;167:267-77. Epub 2007 Nov 23. Muenzer J, Giugliani R, Scarpa M, et al. Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS). Orphanet J Rare Dis 2017;12:161. Kubaski F, Yabe H, Suzuki Y, et al. Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. Biol Blood Marrow Transplant 2017;23:1795-803. Barth AL, de Magalhães TSPC, Reis ABR, et al. Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up. Mol Genet Metab Rep 2017;12:62-68.
Ruijter GJ, Goudriaan DA, Boer AM, et al. Newbornscreening for hunter disease: a small scale feasibility study. JIMD Rep 2014;14:23-7.
Rathmann M, Bunge S, Beck M, et al. Mucopolysaccharidosis type II (Hunter syndrome): mutation “hot spots” in the iduronate- 2-sulfatase gene. Am J Hum Genet 1996;59:1202-9.
Karsten S, Voskoboeva E, Tishkanina S, et al. Mutational spectrum of the iduronate-2-sulfatase (ID