کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1999453 1065855 2008 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia
چکیده انگلیسی

The congenital disorder of glycosylation type Ia (CDG-Ia) presents a broad clinical spectrum. Some patients suffer from acute vascular events (thrombosis and bleeding) and stroke-like events. No correlations have been made between the marked hemostasis abnormalities of CDG-Ia and the occurrence of acute vascular events. We report on 6 patients with CDG-Ia presenting vascular events, then we analyze the clinical and hemostasis data of 39 CDG-Ia patients described in the literature, 17 with vascular events (E) and 21 unscathed from any event (EF), to determine the risk factors for acute vascular events in CDG-Ia. Acute vascular events occurred in patients younger than 15 years, especially with fever and prolonged immobilization. Hemostasis and liver cytolysis were statistically abnormal in patients younger than 5 years whatever the occurrence of vascular events and they normalized with time. Higher factors VIII and IX activities were statistically observed in the E cluster (p = 0.03) compared to the EF cluster. The activity/antigenicity ratio for protein C (p = 0.02) was also higher in the E group. CDG-Ia patients younger than 15 years old are at risk of acute vascular events. The paradoxical results—abnormal VIII and IX factors in EF patients and normal results in E patients, while XI, antithrombin, protein C, ASAT and ALAT are abnormal in both groups, could suggest a disequilibrium between prothrombotic and antithrombotic factors in the E group. Vascular events may also occur in patients where glycoproteins are proportionally more hypoglycosylated, particularly protein C.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 93, Issue 4, April 2008, Pages 444–449
نویسندگان
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