Mucopolysaccharidosis Type II in the Practice of the Physician

I.Y. Vatanskaya, I.P. Strekozova, I.T. Kotelevskaya

Abstract


The article is devoted to one of the hereditary disea­ses — mucopolysaccharidosis type II, which is caused by deficiency of lysosomal enzymes, which leads to the catabolism disorder of the basic substance of the connective tissue mucopolysaccharide molecules — carbohydrate portion (glycosaminoglycans). The tissues (mainly the fibroblasts and mesenchymal cells) accumulate chondroitin sulphate and/or geparanmonosulfat that leads to defective structure of connective tissue, causing gross cellular changes and the development of typical clinical picture. The peculiarities of their clinical manifestations involve manifold of clinical signs, involvement of many organs and systems in the pathological process, different age of onset of the disease that complicate the diagnosis of these diseases. If there is any marked clinical polymorphism (infantile, juvenile, adult forms) all lysosomal diseases are characterized by progressive course, and most of them lead to early disability and premature death. The mucopolysaccharidosis II type as Hunter syndrome is widely spread in the world. The authors present their own clinical observation and indicate the characteristics of the course of respiratory disease in this group of adult patients.


Keywords


hereditary diseases; mucopolysaccharidosis; Hunter syndrome

References


Voskoboeva EJu. [DNA diagnostics of hereditary mukopolisakharidoz]. Med.genetika. 2006; 5(10):33–37. Russian.

Krasnopol'skaja KD. [Hereditary lizosomny diseases]. Informacionnoe pis'mo. M. 2002:5. Russian.

Semjachkina AN. [Mukopolisakharidozy at children].Ros. vest. perinat. i pediatrii. 2007;4:22–29. Russian.

Supotnickij MV. [Genetic restrictions of efficiency and safety of mass vaccination of the population]. Aktual'naja infektologija. 2015; 1:100–15. Russian.

Temin PA. [The illnesses of accumulation which are followed by disturbance of psychological development. Inherited disorders of psychological development of children]. Rukovodstvo dlja vrachej. M:Medicina; 2001:139–49. Russian.

Ashworth JL. The ocular features of the mucopolysaccharidoses. Eye. 2006;20:553–563.

Baehner F. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J. Inherit Metab Dis. 2005;28:1011–1017. Russian.

Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis. IIExpert Opin Pharmacother. 2008;(2):311–7.

Dangel J. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders: clinical and echocardiographic findings in 64 patients. Eur. J. Pediatr. -1998. 157:534–538.

Hopwood JJ. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat. 1993;2(6):435–42.

Isogai K. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inherit Metab Dis. 1998; 21(1):60–70.

Kamin W. Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Paediatr. Suppl. 2008; 97(457):57–60.

Martin R. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. 2008; 121(2):386.

Neufeld EF, Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill. New York; 2001.

Peining L, Thompson JN, Hug G. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation. Am. J. Med. Genet. 1996 (64):531–5.

Simmons MA. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int. J. Pediatr. Otorhinolaryngol. 2005; (69):589–592.

Shire Human Genetic Therapies. Inc. Elaprase product information. Cambridge. MA: Shire Human Genetic Therapies. Inc. October; 2007.

Timms KM. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995; 5(1):71–78.

Wraith J.E. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy / J.E. Wraith (et al.) // Eur. J. Pediatr. - 2008. – 167(3). – Р. 267–277.




DOI: https://doi.org/10.22141/2312-413x.3.12.2016.81721

Refbacks

  • There are currently no refbacks.


Copyright (c) 2016 ACTUAL INFECTOLOGY

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

 

© Publishing House Zaslavsky, 1997-2017

 

 Яндекс.МетрикаSeo анализ сайта Рейтинг@Mail.ru