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Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
Arnoux, J B; Boddaert, N; Valayannopoulos, V; Romano, S; Bahi-Buisson, N; Desguerre, I; de Keyzer, Y; Munnich, A; Brunelle, F; Seta, N; Dautzenberg, M D; de Lonlay, P.
Afiliação
  • Arnoux JB; Metabolic unit, Department of Paediatrics, Hospital Necker-Enfants Malades, Paris, France. jeanbaptiste.arnoux@free.fr
Mol Genet Metab ; 93(4): 444-9, 2008 Apr.
Article em En | MEDLINE | ID: mdl-18093857
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.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Acidente Vascular Cerebral Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2008 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação / Acidente Vascular Cerebral Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2008 Tipo de documento: Article