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

Öz

Congenital Afibrinogenemia/Hypofibrinogenemia (OMIM, 202400) (CA/CH) is one of the rare causes of hereditary hemostasis and 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, we presented a newborn who was initially diagnosed as CH according to fibrinogen level but we confused with genetic examination which revealed a homozygote deletion in the whole FGA gene compatible with CA. Fibrinogen level (<35 mg/dL) of the infant decreased during follow up and the diagnosis of CA became clear. We want to take attention of clinicians to that laboratory findings may not correlate with genotype leading to a diagnostic dilemma in neonatal period,and sometimes diagnostic puzzle completes during follow up.

Anahtar Kelimeler

• Newborn,Congenital afibrinogenemia/hypofibrinogenemia,Bleeding diahesis

Konjenital Hipofibrinojenemi veya Afibrinojenemi ? Yenidoğan Döneminde Tanısal Bir İkilem

Öz

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 (<35 mg / dL) ve CA tanısı izlemde netleşmiştir. Laboratuvar bulguları yenidoğan döneminde klinisyenler için yanıltıcı olabilir, sonuçlar genotip ile uyumlu olmayabilir ve tanısal ikilem yaşanabilir. Bu olgu ile izlem sırasında tanısal bulmacanın çözümlenebildiğine dikkat çekmek istiyoruz.

Anahtar Kelimeler

• Yenidoğan,Konjenital afibrinojenemi/hipofibrinojenemi,Kanama diatezi

Kaynakça

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