Martínez YY, Echavarría EDM

Language: Spanish
References: 4
Page: 411-420
PDF size: 211.40 Kb.

ABSTRACT

The personal experience of a mother that faced the Hurler-Scheie syndrome, strange disease suffered from his son already deceased, is exposed with the purpose to demonstrate that the observation of the changes occurring in a child, is vital for his development. The care toward a young child with this disorder is indispensable to achieve a childhood with life quality; therefore, the Cuban health system should continue designing strategies that guarantee an early diagnosis and the possibility of opportune therapeutic alternatives as the enzymatic substitution therapy.

REFERENCES

1. Grupo de trabajo de enfermedades poco frecuentes. Consenso de diagnóstico y tratamiento de la mucopolisacaridosis de tipo I. Arch Argent Pediatr. 2008; 106(4):361-8.

2. Miebach E. Enzyme replacement therapy in mucopolisaccharidosis type I. Acta Paediatr Suppl. 2005; 94(447):58-60.

3. Wraith JE, Beck M, Lane R, van der Ploeg A, Shapiro E, Xue Y, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alfa-L-iduronidase (Laronidase). Pediatrics. 2007; 120(1):e37-46.

4. Muenzer J, Fisher A. Advances in the treatment of mucopolysaccharidosis Type I. N Engl J Med. 2004; 350(19):1932-4.