Asplenia in a patient with Fanconi's anemia-like congenital aplastic anemia.
Fanconi's anemia (FA) is an autosomal recessive disease manifested by pancytopenia resulting from bone marrow failure, variable physical anomalies and cancer susceptibility. A seven-year-old girl with Fanconi's anemia-like congenital aplastic anemia and concurrent asplenia without the congenital heart defects or the abdominal heterotaxia is reported. Asplenia was indicated using denatured red cells labelled with 51Cr, abdominal ultrasonography and computerized tomography. Immunological studies showed immunoglobulins (IgG, IgA, IgM), C3 and C4 levels within normal limits and the percentage of CD3, and C4 cells and the CD4/CD8 ratio decreased. The patient had not been exposed to recurrent pneumococcal infections. We think that isolated asplenia may occur in patients with Fanconi's anemia-like congenital aplastic anemia without the congenital heart diseases or abdominal heterotaxia.
Department of Pediatrics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
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Erduran
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Okten
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Kaya
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Yildiran
D000741:Anemia, Aplastic / Q000150:complications / Q000151:congenital* / Q000276:immunology; D002648:Child; D005199:Fanconi Anemia; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D013154:Spleen / Q000002:abnormalities*
D007136:Immunoglobulins