이상피브리노젠혈증(선천성) · 희귀질환 · 메디나우 · medinow

이상피브리노젠혈증(선천성) (Dysfibrinogenaemia (congenital))의 공식 지정 정보와 코드, 공개 등록 기준, 질환 설명 및 출처를 확인하세요.

검사기준 o Mutations in the coding region of the fibrinogen FGA, FGB, or FGG genes o Autosomal dominant o Silent(55%), hemorrhagic(25%), thrombotic diathesis(10-20%) (1) Thrombotic variants : thrombophilia, Venous thrombosis of the lower extremity dominates, arterial thrombosis or both venous/arterial thrombosis, postpartum thrombosis, spontaneous abortions : Fibrinogen concentrations were normal or low (2) Hemorrhagic variants : most bleeding manifestations are moderate, but some can be severe : fibrinogen levels < 50-100 mg/dL - higher frequency of bleeding complications : epistaxis, menorrhagia, easy bruisability, soft tissue hemorrhage, postoperative bleeding, antepartum/ postpartum bleeding, hematomas/hemarthrosis : bleeding often manifests after trauma, surgery, or during the postpartum period (3) Silent mutations: 무증상 (4) 기타: renal amyloidosis, renal failure, hepatic storage disease, delayed wound healing and/or wound dehiscence o 진단 (1) Global screening tests: whole blood clotting time, PT, aPTT (2) Initial screening tests: immunologic(antigenic)/ clotting(functional) fibrinogen concentration, thrombin time (TT), reptilase time(RT) - TT/RT: 연장 - Functional fibrinogen: 감소 혹은 정상 - Immunologic fibrinogen concentration: 정상 혹은 증가 - Functional to immunologic fibrinogen ratio: 감소 (3) Specific diagnosis test: demonstration of an abnormal protein or DNA sequence or characterization of the functional defect - Assays for fibrinogen electrophoretic migration, fibrinopeptide release, and fibrin monomer aggregation (4) 가족력 검사항목 특수생화학/면역학·도말/배양검사, 유전학검사 필수검사조합 (특수생화학/면역학·도말/배양검사) 또는 (특수생화학/면역학·도말/배양검사, 유전학검사)

출처: 질병관리청 · 2026-01-31 · 이용허락범위 제한 없음