Mucopolysaccharidosis type VI in Russia, Kazakhstan, and central and Eastern Europe

Pediatrics International

Volumn 56, Issue 4, 2014, Pages 520-525

  Jurecka, Agnieszka ^a,b   Zakharova, Ekaterina ^d   Cimbalistiene, Loreta ^e   Gusina, Nina ^f   Malinova, Vera ^g   Rózdzyńska Swiątkowska, Agnieszka ^a   Golda, Adam ^c   Kulpanovich, Anna ^f   Abdilova, Gulnara Kaldenovna ^h   Voskoboeva, Elena ^d   Tylki Szymańska, Anna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b UNIVERSITY OF GDA SK   (Poland)

^c Department of Cardiology   (Poland)

^d RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^e VILNIUS UNIVERSITY   (Lithuania)

^f National Medical Center Mother and Child   (Belarus)

^g CHARLES UNIVERSITY   (Czech Republic)

^h Scientific Center of Pediatrics and Children's Surgery   (Kazakhstan)

Author keywords

Genotype phenotype analysis; Incidence; Maroteaux Lamy syndrome; Natural history; Prevalence; Urinary glycosaminoglycan

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BELARUS; BODY HEIGHT; CHILD; CLINICAL ARTICLE; DISEASE COURSE; ESTONIA; GENE DELETION; GENE INSERTION; GENOTYPE; GROWTH DISORDER; HEART FAILURE; HETEROZYGOSITY; HUMAN; INCIDENCE; KAZAKHSTAN; LITHUANIA; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; POLAND; PREVALENCE; PRIORITY JOURNAL; RUSSIAN (CITIZEN); RUSSIAN FEDERATION; SKELETON MALFORMATION; SPINAL CORD COMPRESSION; CLINICAL TRIAL; EUROPE; FEMALE; GENETICS; MALE; MUCOPOLYSACCHARIDOSIS VI; MULTICENTER STUDY; MUTATION; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; EUROPE; FEMALE; HUMANS; INCIDENCE; KAZAKHSTAN; MALE; MUCOPOLYSACCHARIDOSIS VI; MUTATION; PHENOTYPE; PREVALENCE; RUSSIA;

EID: 84926195429     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12281     Document Type: Article

References (23)

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS (eds). The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, 2001; 3421-52.
2. Baehner F, Schmiedeskamp C, Krummenauer F et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J. Inherit. Metab. Dis. 2005; 28: 1011-17.
3. Malm G, Lund AM, Mansson J.E., Heiberg A. Muco-polysaccharidoses in the Scandinavian countries: Incidence and prevalence. Acta Paediatr. 2008; 97: 1577-81.
4. Valayannopoulos V, Nicely H, Harmatz P., Turbeville S. Mucopolysaccharidosis VI. Orphanet J. Rare Dis. 2010; 5: 5.
5. Golda A, Jurecka A, Tylki-Szymanska A. Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). Int. J. Cardiol. 2011; 158: 6-11.
6. Golda A, Jurecka A, Opoka-Winiarska V, Tylki-Szymanska A. Mucopolysaccharidosis type VI: A cardiologist's guide to diagnosis and treatment. Int. J. Cardiol. 2013; 167: 1-10.
7. Litjens T, Baker EG, Beckmann K.R., Morris CP, Hopwood JJ, Callen DF. Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase. Hum. Genet. 1989; 82: 67-8.
8. Paterson DE, Harper G, Weston H.J., Mattingley J. Maroteaux-Lamy syndrome, mild form: MPS VI B. Br. J. Radiol. 1982; 55: 805-12.
9. Pilz H, von Figura K, Goebel HH. Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B). Ann. Neurol. 1979; 6: 315-25.
10. Jurecka A, Piotrowska E, Cimbalistiene L et al. Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Mol. Genet. Metab. 2012; 105: 237-43.
11. GUS Central Statistical Office. Births in the period 1970-2009. [Cited 19 July 2013.] Available from URL: http://www.stat.gov.pl/gus/5840-646-PLK-HTML.htm
12. National Statistical Committee of the Republic of Belarus. Population of the Republic of Belarus. [Cited 19 July 2013.] Available from URL: http://www.belstat.gov.by/homep/en/main.html
13. Main demographic indicators. Births, deaths and natural increase. [Cited 19 July 2013.] Available from URL: http://pub.stat.ee/px-web.2001/I-Databas/Population/01Population-indicators-and-composition/02Main-demographic-indicators/02Main-demographic-indicators.asp
14. LS Statistics Lithuania. Number of population, live births, deaths by month. [Cited 19 July 2013.] Available from URL: http://db1.stat.gov.lt/statbank/SelectTable/omrade0.asp?SubjectCode=S3&PLanguage=1&ShowNews=OFF
15. Jurecka A, Golda A, Opoka-Winiarska V, Piotrowska E., Tylki-Szymanska A. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. Mol. Genet. Metab. 2011; 104: 695-99.
16. Voskoboeva E, Krasnopol'skaia KD, Peters K, von Figura K. [Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. Genetika 2000; 36: 837-43.
17. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007; 120: 405-18.
18. Azevedo A, Schwartz IV, Kalakun L et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin. Genet. 2004; 66: 208-13.
19. Marucha J, Jurecka A, Syczewska M., Rozdzynska-Swiatkowska A, Tylki-Szymanska A. Restricted joint range of motion in MPS II patients: Correlation with height, age and functional status. Acta Paediatr. 2012; 101: e183-88.
20. Swiedler SJ, Beck M, Bajbouj M et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am. J. Med. Genet. A 2005; 134A: 144-50.
21. Gallegos-Arreola MP, Machorro-Lazo MV, Flores-Martinez SE et al. Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch. Med. Res. 2000; 31: 505-10.
22. Thumler A, Miebach E, Lampe C et al. Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: A case series. J. Inherit. Metab. Dis. 2012; 35: 1071-9.
23. Nelson J, Crowhurst J, Carey B., Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am. J. Med. Genet. A 2003; 123A: 310-13.