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DOI 10.4314/eamj.v87i2.60603

Медицинская библиотека · East African medical journal · 2010

Congenital afibrogenaemia in a Kenyan child: case report.

Kitonyi G W, Duncan A, Githang'a J N, Rajab J A, Nyaligu E A, Ireri J

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Аннотация

Congenital afibrinogenaemia (CA), is a rare inherited bleeding disorder characterised by complete deficiency of fibrinogen in the plasma. Blood clotting tests are indefinitely prolonged in patients. The mode of inheritance is autosomal recessive. Typically patients present with excessive cord bleeding after birth with intracerebral haemorrhages reported in childhood. Other manifestations include musculoskeletal haemorrhages, mucocutaneous bleeds with poor wound healing reported occasionally. In females, menorrhagia, repeated early pregnancy loss and post-partum haemorrhages are common. We present a four year old female who initially presented with severe cord bleeding after birth, warranting a blood transfusion. Currently she experiences recurrent epistaxis, easy bruising and excessive post-traumatic haemorrhages. All her clotting times are markedly prolonged. Her plasma fibrinogen and fibrinogen antigen are undetectable. An older sibling died from excessive cord haemorrhage after birth. Bleeds in CA respond very favourably to fibrinogen concentrates, cryoprecipitate and fresh plasma. To date, 242 cases of CA have been reported worldwide, none of them in Kenya. Our aim in reporting this case is to document the disorder, and also to raise the index of suspicion of the condition.

Для цитирования: Kitonyi G W, Duncan A, Githang'a J N, Rajab J A, Nyaligu E A, Ireri J. Congenital afibrogenaemia in a Kenyan child: case report.. East African medical journal. 2010. DOI: 10.4314/eamj.v87i2.60603.

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