A patient with Fanconi anaemia who presented with isolated thrombocytopenia at older age
Küçük Resim Yok
Tarih
2005
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info:eu-repo/semantics/closedAccess
Özet
Fanconi anaemia is a rare autosomal recessive disease characterized by multiple congenital abnormalities, bone marrow failure, and cancer tendency. We report a-22 year-old male patient diagnosed with Fanconi anaemia, who had isolated thrombocytopenia. Initially, we thought that the thrombocytopenia was secondary to infection; but the platelet count did not improve after the infection. He had a special physical appearance, brown pigmentation, left renal ectopia, and L5-vertebral dysplasia. Fanconi anaemia, therefore was considered and the diagnosis was confirmed with diepoxybutane test. This case has warranted that Fanconi anaemia could be presented with isolated thrombocytopenia and could be considered the differential diagnosis of thrombocytopenia. Copyright © Hellenic Society of Haematology.
Açıklama
Anahtar Kelimeler
Bone Marrow Failure; Diepoxybutane; Fanconi Anemia; Thrombocytopenia, Butadiene Diepoxide; Adult; Article; Autosomal Recessive Disorder; Bone Marrow Depression; Cancer Susceptibility; Case Report; Differential Diagnosis; Ectopic Kidney; Fanconi Anemia; Human; Infection; Male; Thrombocyte Count; Thrombocytopenia
Kaynak
HAEMA
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
8
Sayı
3
