A Clinical Study of Fanconi's Anemia / 대한소아혈액종양학회지

ABSTRACT

BACKGROUND: Fanconi's anemia(FA) is an autosomal recessive disease characterized by aplastic anemia and congenital malformations. As up to 30% of patients have no physical stigmata, the modern diagnosis of FA rests on chromosomal breakage of patient's cells induced by chemical clastogens such as diepoxybutane(DEB) or mitomycin-C(MMC). METHODS: We reviewed the clinical manifestations, laboratory findings, diagnostic methods, treatment and outcome of 6 patients diagnosed to have a FA at the Chonnam University Hospital for the last 6 years. RESULTS: Six cases(16.2 %) were found to have FA among 37 aplastic children who were diagnosed during the same period. The mean age at diagnosis was 6.3 years which was the usual onset of hematologic findings. All patients had features of aplastic anemia, and had one or more anomalies, such as low birth weight, hyperpigmentation, cafeau-lait spots, mental retardation, developmental delay, peculiar face(broad nasal bases, epicanthal folds, micrognathia), polydactyly, microcephaly, short stature, and dislocation of hip. We found increased breaks in cultured cells with DEB and MMC in 5 cases tested. The median duration of follow-up was 30 months. Oxymetholone and prednisolone treatment was partially beneficial in three cases. Immunosuppressive treatment with ALG/ATG was not successful in two cases tried. Four cases are living now, without transfusion in three. Two patients were died of disseminated fungal infection and transplant-related problems, respectively. CONCLUSIONS: Fanconi's anemia should be sought carefully in any patients with aplastic anemia because the prognosis, treatment modality, and the approach to bone marrow transplantation are quite different when the hematologic disorder is inherited rather than acquired.