Congenital factor XIII deficiency: Case report

Yıl 2006, Cilt: 37 Sayı: 3, 77 - 79, 01.04.2006

Reşit Köken Ayşegül Bükülmez Hamide Melek Tevfik Demir Ülker Yiğit

Öz

Congenital factor XIII deficiency is a rare hereditary bleeding disorder. Standart coagulation studies are generally normal in these patients. Umbilical cord bleeding is the most common presenting manifestation of factor XIII deficiency, occuring in more than 80 % of the patients. This patient presented on the 7th postnatal day with excessive umbilical bleeding. The platelet count, bleeding time, prothrombin time (PT) and partial thromboplastin time (PTT) tests were normal. Red blood cell and fresh frozen plasma were transfused to the patient. Prior to the transfusion, FXIII deficiency was diagnosed with 5 M urea testing of blood samples. FXIII deficiency should be kept in mind in patients with abnormal bleeding patterns, even in the presence of normal standart coagulation tests.

Anahtar Kelimeler

Hemophilia A, Infant, Newborn, Diseases, Infant, Newborn, Female, Hemorrhage

Konjenital faktör XIII eksikliği

Öz

Konjenital Faktör XIH(FXIII) eksikliği nadir görülen kalıtsal kanama bozukluklarındandır. FXIII eksikliği olan hastalarda standart coagulation testleri normal olarak bulunur. FXIII eksikliği olan vakaların % 80'ninden fazlasında umbilikal kanama görülür. Doğumundan 7 gün sonra göbeğinin düşmesiyle aşırı kanaması olan hastada trombosit sayısı, kanama zamanı, protrombin zamanı (PT) ve parsiyel tromboplastin zamanı normal bulundu. Aşırı kanama nedeniyle hastaya eritrosit süsponsiyonu, taze donmuş plazma verildi. Hastaya transfüzyon yapılmadan önce alınan kanda bakılan 5 M üre testi ile FXIII eksikliği konuldu. Sonuç olarak standart koagulasyon tetkikleri normal bulunan kanamalı hastalarda FXIII eksikliği düşünülmelidir.

Anahtar Kelimeler

Hemofili A, Süt çocuğu, yenidoğan, hastalıklar, Süt çocuğu, yenidoğan, Kadın, Kanama

Kaynakça

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