Diagnostic criteria for identification of MPS type I in routine pediatric clinical practice. Data of the pilot project
- Authors: Vashakmadze N.D1,2, Namazova-Baranova L.S1,2, Gevorkyan A.K1,2, Demura S.A3, Kuzenkova L.M1, Podkletnova T.V.1
-
Affiliations:
- National Medical Research Center for Children's Health
- N.I. Pirogov Russian National Research Medical University
- I.M. Sechenov First Moscow State Medical University (Sechenov University)
- Issue: No 1 (2018)
- Pages: 61-68
- Section: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/294512
- ID: 294512
Cite item
Abstract
Full Text
![Restricted Access](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_lock.png)
About the authors
N. D Vashakmadze
National Medical Research Center for Children's Health; N.I. Pirogov Russian National Research Medical University
Email: nato-nato@yandex.ru
PhD, Leading Researcher at the Laboratory of Rare Hereditary Diseases; Associate Professor at the Department of Faculty Pediatrics of the Pediatric Faculty
L. S Namazova-Baranova
National Medical Research Center for Children's Health; N.I. Pirogov Russian National Research Medical University
A. K Gevorkyan
National Medical Research Center for Children's Health; N.I. Pirogov Russian National Research Medical University
S. A Demura
I.M. Sechenov First Moscow State Medical University (Sechenov University)
L. M Kuzenkova
National Medical Research Center for Children's Health
T. V. Podkletnova
National Medical Research Center for Children's Health
References
- Neufeld E.F, Muenzer J. in The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill, 2001. P. 3421-52.
- Федеральные клинические рекомендации по оказанию медицинской помощи детям с мукополисахаридозом I типа» / Под ред. А.А. Баранова. М., 2016.
- Whitley C.B., Ridnour M.D., Draper K.A., Dutton C.M., Neglia J.P. Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin Chem. 1989; 35: 374-79.
- Moore D., Connock M.J., Wraith Ed, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J. Rare Dis. 2008; 3: 24.
- Stenson P.D., Ball E.V., Mort M., Phillips A.D., Shiel J.A., Thomas N.S., Abeysinghe S., Krawczak M., Cooper D.N. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 2003; 21: 577-81.
- Beck M., Arn P., Giugliani R., Muenzer J., Okuyama T, Taylor J., Fallet S. The natural history of MPS I: global perspectives from the MPSI Registry. Genet Med. 2014; 16(10): 759-65. doi: 10.1038/gim.2014.25. Epub 2014 Mar 27.
- Clarke LA. Mucopolysaccharidosis Type I. GeneReviews. Initial Posting: October 31, 2002; Last Update: February 11, 2016.
- Thomas J.A., Beck M., Clarke J.R., Cox G.F. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J. Inherit. Metab. Dis. 2010; 33: 421-27.
- Braunlin E.A, Harmatz PR., Scarpa M., Furlanetto B., Kampmann C., Loehr J.P, Ponder K.P, Roberts W.C., Rosenfeld H.M., Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J. Inherit. Metab. Dis. 2011; 34: 1183-97.
- Kampmann C., Beck M., Morin I., Loehr J.P. Prevalence and Characterization of Cardiac Involvement in Hunter Syndrome. J. Pediatr. 2011; 159: 327-31.
- Arn P., Bruce I.A., Wraith J.E., Travers H., Fallet S. Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I. Ann. Otol. Rhinol. Laryngol. 2015; 124(3): 198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.
- Muenzer J., Wraith J.E., Clarke L.A: International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009; 123(1): 19-29. 38.
- Moore D., Connock M.J., Wraith E., Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet. J. Rare Dis. 2008; 3: 24.
- Bruni S., Lavery C., Broomfield A. The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences. Mol. Genet. Metab. Rep. 2016; 8: 67-73.
- D'Aco K., Underhill L., Rangachari L., Arn P., Cox G.F., Giugliani R., Okuyama T., Wijburg F., Kaplan P. Diagnosis and treatment trends in ucopolysaccharidosis I: findings from the MPS I Registry. Europ. J. Ped. 2012; 171(6): 911-19.
- Kiely B.T., Kohler J.L., Coletti H.Y., Poe M.D., Escolar M.L. Early disease progression of Hurler syndrome. Orphanet. J. Rare Dis. 2017; 12(1): 32. doi: 10.1186/s13023-017-0583-7.
- Arn P., Bruce I.A., FRCS (ORL-HNS), Wraith J.E., Travers H. Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I. Annals of Otology, Rhinology & Laryngology. 2015; 124(3): 198-205.
- Colon C., Alvarez J.V., Castano C., Gutierrez-Solana L.G., Marquez A.M., O'Callaghan M., Sánchez-Valverde F., Yeste C., Couce M.L. A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study. Medicine. 2017; 96: 19.
Supplementary files
![](/img/style/loading.gif)