Pineda-Galindo LF, Moranchel-García L

Language: Spanish
References: 15
Page: 99-105
PDF size: 519.79 Kb.

ABSTRACT

Mucopolysaccharidosis type I (MPS I) is the prototype lysosomal storage disease. It is characterized by a deficiency of the enzyme a-L-iduronidase, resulting in the accumulation of glycosaminoglycans in different tissues and organs with varying severity and three clinical presentations according to severiry. We report the case of a 19-year-old male patient with a confirmed diagnosis of MPS I and enzymatic treatment with a favorable clinical response. The objective of this report is to describe the clinical picture, course and treatment of MPS I, and the role of the internist in disease monitoring and management of complications.

REFERENCES

1. Clarke LA, Heppner J. Mucopolysaccharidosis type I. Gene- Reviews. Seattle (WA): University of Washington, Seattle, 2002;1993-2013.

2. D'Aco K, Underhill L, Rangachari L, Arn P, et al. Diagnosis and treatment trends in mucopolysaccharidosis I: Findings from the MPS I Registry. Eur J Pediatr 2012;171:911-919.

3. Amorín M, Carlin A, Prötzel A. Mucopolysaccharidosis I, Hurler syndrome: a case report. Arch Argent Pediatr 2012;110:103-106.

4. Muñoz-Rojas MV, Bay L, Sanchez L, Van Kuijck M, et al. Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world. J Inherit Metab Dis 2011;34:1029-1037.

5. Tatapudi R, Gunashekhar M, Raju PS. Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report. Contemp Clin Dent 2011;2:66-68.

6. Gabrielli O, Clarke L, Bruni S, Coppa G. Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Pediatrics 2010;125:183-187.

7. Prasad VK, Kurtzberg J. Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions. Br J Haematol 2010;148:356-372.

8. Valayannopoulos V, Boddaert N, Barbier V, Le Merrer M, et al. Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase. Mol Genet Metab 2010;100:20-23.

9. Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA. Laronidase treatment of mucopolysaccharidosis I. BioDrugs 2005;19:1-7.

10. Sardón O, García Pardos C, Mintegui J, Pérez Ruiz E y col. Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana alfa-Liduronidasa. An Pediatr 2005;63:61-67.

11. Kakkis E, Muenzer J, Tiller G, Waber L, Belmont J, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344:182-188.

12. Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, et al. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant 2008;41:531-535.

13. Tylki-Szymanska A, Marucha J, Jurecka A, Syczewska M, Czartoryska B. Efficacy of recombinant human alpha-L iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. J Inherit Metab Dis 2010;33:151-157.

14. De Ru MH, Boelens JJ, Das AM, Jones SA, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis 2011;6:55.

15. Muenzer J, Wraith JE, Clarke LA. The International Consensus Panel on the management and treatment of mucopolysaccharidosis I. Pediatrics 2009;123:19-29