بررسی بالینی و بقای 36 کودک مبتلا به آنمی فانکونی

Fanconi anemia is the most prevalent form of inherited aplastic anemia which is characterized by progressive bone marrow failure, congenital anomalies and cancer susceptibility. Common anomalies are skeletal abnormalities, skin pigmentation disorder, short stature, head abnormalities, kidney and gonad disorders respectively. Complications of fanconi anemia include: leukemia due to defective DNA repair in approximately 10% of patients, liver tumors in 5% and cancers (except leukemia and liver tumors) in 5%. In addition to clinical and radiologic investigation of children with fanconi anemia, survival, prognostic factors and complications of disease were also determined. This retrospective analytic cross-sectional study was carried out on 36 patients with fanconi anemia who were diagnosed in Ali Asghar Children Hospital from 1985-2002. Data was analyzed by SPSS software and log rank test was used to determine survival, life table and prognostic factors. Skeletal abnormalities were the most common congenital anomalies and other anomalies were skin pigmentation disorder, short stature, kidney disorder, microcephaly and male genital disorder respectively. 5 and 10-year survival rates of patients with fanconi anemia were 80% and 71% respectively. In bivariate analysis, the age at diagnosis correlated with survival rate significantly (P=0.006) and patients with age less than 10 years at diagnosis had more survival rate than others. In our study, The prevalence of kidney disorder as a congenital anomaly is more than other investigations and the frequency of short stature, microcephaly, skin pigmentation and male genitalia disorder is less than others. One of the considerable results of this research was the absence of neoplastic complication in our patients.