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Mukopolisakkaridozis sendromları

Hurler sendromu

Gargoylism, MPS I-H, Hunter-Hurler, Hurler-Pfaundler, dysostosis multiplex

Kalıtsal

1 yaşından sonra belirir

Gelişme geriliği

Boyun kısa

Makrosefali

Kafa tabanı kemikleri kalın

Sella turcica nal biçiminde

Hidrosefalus

Toraks ve kosta malformasyonları

Ağır göz kapakları

Kornea bulanıklığı

Burun basık

Yüzde kıllanma

Nazolabial oluk belirgin

Dudaklar kalın

Ağız açık

Makroglossi

Mikrognati (kısa-yayvan altçene)

Temporomandibular eklemde kondil anomalileri

Dişlerde sürme aksamaları

Maloklüzyon

Ön bölgede diastemalar

Kök anomalileri

Dişlerde kuron aşınmaları

Dentigeröz kist izlenimi veren oluşumlar

Gingivitis

Gingival hiperplazi

Akut kardiyomyopati

Pulmoner hipertansiyon

Pnömoni atakları

Kıkırdak, kornea ve tendon bağ dokuları yapısı bozuk

Gar­goyle hücreleri (beyin, hipofiz, karaciğer, dalak, lenf düğümleri, kalp)

Hepatosplenomegali

İnguinal herniler

İdrarda bol kondroitin sülfat B ve heparin sülfat

Zeka geriliği

 

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  • Feder HM Jr. Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Current Opinion in Pediatrics, 12(3):253-256, 2000

  • Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001

  • Azevedo AC, Schwartz IV, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clinical Genetics, 66(3):208-213, 2004

  • Froissart R, Da Silva IM, Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatrica, Suppl.96:71-77, 2007

  • Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics. Annual Review of Genomics and Human Genetics, 9:359-386, 2008

  • Garrido E, Cormand B, Hopwood JJ, et al. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular Genetics & Metabolism, 94(3):305-312, 2008

  • Thomas JA, Beck M, Clarke JTR, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. The Journal of Inherited Metabolic Disease, 33(4): 421-427, 2010

  • Malm G, Månsson JE. Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatrica, 99(8):1253-1257, 2010

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Sampaio I, Marques JG. Periodic fever with aphthous stomatitis, pharyngitis and adenitis: report of 21 cases. Acta Médica Portuguesa, 24(1):37-42, 2011

  • D’Aco K, Underhill L, Rangachari L, et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. European Journal of Pediatrics, 171(6): 911-919, 2012

  • Kayserili H, Kantaputra PN. Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient. American Journal of Medical Genetics, 158A:1798–1800, 2012

  • Burton BK, Giugliani R. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. European Journal of Pediatrics, 171(4): 631-639, 2012

  • Giugliani R, Villarreal MLS, Valdez CAA, et al. Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. Genetics & Molecular Biology, 37(2): 315-329, 2014

  • Tylki-Szymańska A. Mucopolysaccharidosis type II, Hunter's syndrome. Pediatric Endocrinology Reviews, 12 Suppl 1:107-113, 2014

  • Bodamer OA, Giugliani R, Wood T. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Molecular Genetics & Metabolism, 113(1-2):34-41, 2014

  • Vairo F, Federhen A, Baldo G, et al. Diagnostic and treatment strategies in mucopolysaccharidosis VI. The Application of Clinical Genetics, 8: 245–255, 2015

  • Fedele AO. Sanfilippo syndrome: causes, consequences, and treatments. The Application of Clinical Genetics, 8: 269-281, 2015

  • Hendriksz CJ, Berger KI, Giugliani R, et al. International Guidelines for the Management and Treatment of Morquio A Syndrome. American Journal of Medical Genetics A, 167(1): 11-25, 2015

  • Ahmed A, Rudser K, Kunin-Batson A, et al. Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, reliability, and validity. JIMD Reports, 26: 61-68, 2016

 

 

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