家族史用于筛查中风儿童血栓形成前基因的效果不佳

来源 :世界核心医学期刊文摘(儿科学分册) | 被引量 : 0次 | 上传用户:xufuen2001
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Objective: To evaluate family history of early pathological thrombosis as a sc reen for genetic prothrombotic risk factors in children with stroke. Study desig n: A 5-year retrospective review of standardized pediatric stroke clinic evaluations of children with arterial ischemic stroke (AIS) or sinovenous thrombosis (SVT). A family history of early pathological thrombosis was defined as stroke, heart attack, or deep venous thrombosis before 50 years of age or multiple miscarriages in the parents or grandparents of the patient. W e evaluated the association between family history and the presence of the Facto r V Leiden mutation (FVL) and/or Prothrombin G20210A mutation (PTG) in these chi ldren. Results: The study included 68 children. Thirteen (19.1%) had a positive family history of early pathological thrombosis, nine (13.2%)were heterozygous for FVL, and one (1.5%) was heterozygous for PTG. Family history was not assoc iated with the presence of FVL (P= .36) or FVL combined with PTG (p = .40). For FVL, family history had a positive predictive value of 23.1%and a negative pred ictive value of 89.1%. Conclusion: A family history of early thrombosis is not associated with the presence of FVL or PTG in children with stroke. We recommend that all children with stroke receive a prothrombotic workup regardless of fami ly history. Objective: To evaluate family history of early pathological thrombosis as a sc reen for genetic prothrombotic risk factors in children with stroke. Study desig n: A 5-year retrospective review of standardized pediatric stroke clinic evaluations of children with arterial ischemic stroke (AIS) or A family history of early pathological thrombosis was defined as stroke, heart attack, or deep venous thrombosis before 50 years of age or multiple miscarriages in the parents or grandparents of the patient. W e evaluated the association between family history and the presence of the Facto r V Leiden mutation (FVL) and / or Prothrombin G20210A mutation (PTG) in these chi ldren. Results: The study included 68 children. Thirteen (19.1%) had a positive family history of early pathological thrombosis, Family history was not assocated with the presence of FVL (P = .36) or FVL combined with PTG (13.2%) were heterozygous for FVL, and one (1.5%) was heterozygous for PTG (p = .40). For FVL, family history had a positive predictive value of 23.1% and a negative pred ictive value of 89.1%. Conclusion: A family history of early thrombosis is not associated with the presence of FVL or PTG in children with stroke. We recommend that all children with stroke receive a prothrombotic workup regardless of fami ly history.
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