A. Neslihan Tekin, Serdar Ceylaner, Özcan Bör, Mehmet Yücel, Zeynep Canan Özdemir, Özge Sürmeli Onay

Konjenital Hipofibrinojenemi veya Afibrinojenemi? Yenidoğan Döneminde Tanısal Bir İkilem

Konjenital Afibrinojenemi / Hipofibrinojenemi (OMIM, 202400) (CA / CH), kalıtsal hemostazın nadir nedenlerinden biridir ve otozomal resesif olarak kalıtılır. Fibrinojen seviyesi 0.7-1 g / L’nin altında olmadığı sürece spontan kanamalar yaygın değildir. Konjenital afibrinojenemi, uzamış Protrombin Süresi (PT), aktive Parsiyel Tromboplastin Süresi (aPTT), Uluslararası Normalize Oranı (INR), Trombin Süresi (TT) ve çok düşük veya ölçülemeyen fibrinojen seviyeleri ile karakterizedir. Burada fibrinojen düzeyine göre başlangıçta CH tanısı konmuş ancak genetik analizi CA ile uyumlu tüm FGA geninde homozigot delesyon saptanan bir yenidoğanı sunulmuştur. İzlemde bebeğin fibrinojen düzeyi azalmış ve hatta çok düşük seyretmiştir (

Congenital Hypofibrinogenemia or Afibrinogenemia?; A Diagnostic Dilemma in Neonatal Period

Congenital Afibrinogenemia/Hypofibrinogenemia (OMIM, 202400) (CA/CH) is one of the rare causes of hereditary hemostasisand is inherited in an autosomal-recessive. Spontaneous bleedings are not common unless the fibrinogen level is below 0.7-1 g/L.Congenital afibrinogenemia is characterized with prolonged Prothrombin Time (PT), activated Partial Thromboplastin Time(aPTT), International Normalized Ratio (INR), Thrombin Time (TT), and very low or unmeasurable fibrinogen levels. Here, wepresented a newborn who was initially diagnosed as CH according to fibrinogen level but we confused with genetic examinationwhich revealed a homozygote deletion in the whole FGA gene compatible with CA. Fibrinogen level (

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