کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9368226 1272440 2005 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana α-L-iduronidasa
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana α-L-iduronidasa
چکیده انگلیسی
Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Anales de Pediatría - Volume 63, Issue 1, July 2005, Pages 61-67
نویسندگان
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