Nowa wersja platformy, zawierająca wyłącznie zasoby pełnotekstowe, jest już dostępna.
Przejdź na


Preferencje help
Widoczny [Schowaj] Abstrakt
Liczba wyników
2011 | 6 | 2 | 163-171
Tytuł artykułu

Natural history of Polish patients with mucopolysaccharidosis type VI

Treść / Zawartość
Warianty tytułu
Języki publikacji
The aim of the study was to describe the natural history, anthropometric features, range of motion (ROM) and molecular characteristics of Polish patients with mucopolysaccharidosis (MPS) VI. Clinical heterogeneity was observed and two major clinical phenotypes of the disease were distinguished, rapidly advancing and relatively attenuated. Two patients developed symptoms early in life presenting with short stature, significant skeletal malformations and other clinical abnormalities. In two other patients, height was only slightly decreased and MPS features developed later in the course of the disease. All patients had similar characteristics at the time of birth but showed significant differences in body proportions when compared with the healthy population. Differences between healthy and affected children increased with age and were reflected in phenotypes. Analysis of ROM showed impairments at multiple joints, although to a various degree in different patients. Restriction in upper extremity ROM was observed since the second year of life, while restriction in lower extremity ROM developed later and influenced stereotype of walking. These limitations intensified with the patients’ age, which made self-care more difficult or impossible. The molecular analysis revealed that the milder phenotype may be associated with the R152W mutation, which suggests a specific genotype-phenotype correlation.

Opis fizyczny
  • Anthropometry Laboratory, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland
  • Department of Metabolic Diseases, Endocrinology and Diabetology, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland
  • Department of Genetics, Institute of Psychiatry and Neurology, ul. Sobieskiego 9, 02957, Warsaw, Poland
  • Department of Molecular Biology, University of Gdansk, Kladki 24, 80822, Gdansk, Poland
  • Department of Metabolic Diseases, Endocrinology and Diabetology, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04730, Warsaw, Poland
  • [1] Neufeld EF, Muenzer J., The mucopolysaccharidoses. In Scriver CR, Beaudet AL, Sly WS, et al., (Eds.), The metabolic and molecular basis of inherited disease. New York: McGraw-Hill, 2001
  • [2] Azevedo AC, Schwartz IV, Kalakun L, et al., Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI, Clin. Genet., 2007, 66, 208–213[Crossref]
  • [3] Hinek A, Wilson SE. Impaired elastogenesis in Hurler disease. Dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly, Am. J. Pathol., 2000, 156, 925–938[Crossref]
  • [4] Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I), Curr. Opin. Rheum., 2005, 17, 70–78[Crossref]
  • [5] Simonaro CM, D’Angelo M, He X, et al., Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases, Am. J. Pathol., 2008, 172, 112–122[WoS][Crossref]
  • [6] Tylki-Szymanska A, Marucha J, Jurecka A, et al., Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted upper extremities range of motion in MPS I patients, J. Inherit. Metab. Dis., (in press), DOI 10.1007s/10545-010-9059-9 [WoS]
  • [7] Rozdzynska A, Tylki-Szymanska A, Jurecka A, Cieslik J. Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II, Acta Paediatr., (in press), DOI 10.1111/j.1651-2227.2010.02060.x [Crossref][WoS]
  • [8] Sifuentes M, Doroshow R, Hoft R, et al., A followup study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years, Mol. Genet. Metab., 2007, 90, 171–180[WoS][Crossref]
  • [9] Cardoso-Santos A, Azevedo AC, Fagondes S, et al., Mucopolisaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength, J. Pediatr. (Rio J), 2008, 84, 130–135[WoS][Crossref]
  • [10] Tylki-Szymanska A, Rozdzynska A, Jurecka A, et al., Anthropometric data of 14 patients with mucopolysaccharidosis I: restrospective analysis and efficacy of recombinant human alpha-Liduronidase (laronidase), Mol. Genet. Metab., 2010, 99, 10–17[Crossref][WoS]
  • [11] Harmatz P, Giugliani R, Schwartz I, et al., Enzyme replacement therapy formucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study, J. Pediatr., 2006, 148, 533–539
  • [12] Scarpa M, Barone R, Fiumara A, et al., Mucopolysaccharidosis VI: the Italian experience, Eur. J. Pediatr., 2009, 168, 1203–1206[Crossref][WoS]
  • [13] McGill JJ, Inwood AC, Coman DJ, et al., Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study, Clin. Genet., 2010, 77, 492–498[Crossref]
  • [14] Gerhardt JJ, Clinical measurements of joint motion and position in the neutral-zero method and SFTR recording: Basic principles, Disability & Rehabilitation, Volume 5, Issue 4, 1983
  • [15] Gerhardt JJ, Rondinelli RD. Goniometric techniques for range-of-motion assessment, P h y s. Med. Rehabil. Clin. N. Am., 2001, 12, 507–527
  • [16] Zembaty A, Kinezyterapia, volume 1; Krakow, 2002
  • [17] Pennock CA. A modified screening test for glycosaminoglycan excretion, J. Clin. Pathol., 1969, 22, 379–380[Crossref]
  • [18] Humbel R. Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI, Clin. Chim. Acta, 1976, 68, 339–361[Crossref]
  • [19] Dubois G, Turpin JC, Bauman N., Utilisation de l’électrophorese pour la détection de la Leucodystrophie Metachromatique á partir de leucocytes humains. C.R.Acad.Sc.Paris 278, Serie D, 1974
  • [20] Palczewska I, Niedźwiedzka Z., Wskaźniki rozwoju somatycznego dzieci i mŁodzieży warszawskiej, Medycyna Wieku Rozwojowego V. Suplement I do nr 2, 2001
  • [21] Cieslik J, Kaczmarek M, Kaliszewska-Drozdowska MD., Dziecko Poznanskie’ 90. Wzrastanie, dojrzewanie, normy i metody rozwoju. (The Poznan Child’90. Growth, Development, Reference standards.). Poznan: Wydawnictwo Naukowe Bogucki, 1994
  • [22] Voskoboeva E, Isbrandt D, von Figura K, et al., Four novel mutatnt alleles of the arylosulfatase B gene in two patients with intermediate form of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), Hum. Genet., 1994, 93, 259–264[Crossref]
  • [23] Karageorgos L, Brooks DA, Pollard A, et al., Mutational analysis of 105 mucopolysaccharidosis type VI patients, Hum. Mutat., 2007, 28, 897–903
  • [24] Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymanska A, et al., Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and defficiency of glycosaminoglycan synthesis, Acta Paediatr., 2009, 98, 743–749[Crossref][WoS]
Typ dokumentu
Identyfikator YADDA
JavaScript jest wyłączony w Twojej przeglądarce internetowej. Włącz go, a następnie odśwież stronę, aby móc w pełni z niej korzystać.