Presentation and outcome of 25 cases of Fanconi's anemia.
Twenty-five children with Fanconi's anemia (FA) who attended the Paediatric Haematology Clinic of Red Cross Children's Hospital over the past 20 years were retrospectively reviewed. There was a female predominance with 17 girls and 8 boys in the group. The clinical features and laboratory data are enumerated. An unusually high prevalence of gastrointestinal anomalies (20%) was found. Seventeen children received an adequate trial of androgen therapy and in 12 the initial hemoglobin concentration increased by more than 2 g/dl or return to normal. Most patients subsequently required intermittent courses of androgens but three were able to stop treatment and maintain a normal hemoglobin concentration for from 3.5 to 20 years. Ten patients remain alive, of whom five had less severe hematological problems and did not require any treatment. The mean period of follow-up of the survivors is 8.7 years. Thirteen patients have died, with a mean time of 5.5 years from diagnosis to death. Of the deaths, two were due to malignant disease and one resulted from cerebral hemorrhage. The other 10 children died of confirmed or suspected infections. Treatment options of FA are discussed.
Rogers
P C
PC
Department of Paediatrics, Red Cross War Memorial Children's Hospital, University of Cape Town, Republic of South Africa.
Desai
F
F
Karabus
C D
CD
Hartley
P S
PS
Fisher
R M
RM
D000015:Abnormalities, Multiple; D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000728:Androgens / Q000627:therapeutic use; D000741:Anemia, Aplastic / Q000097:blood / Q000188:drug therapy / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004065:Digestive System Abnormalities; D004359:Drug Therapy, Combination; D005199:Fanconi Anemia / Q000097:blood / Q000188:drug therapy / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012008:Recurrence; D012189:Retrospective Studies
D000305:Adrenal Cortex Hormones; D000728:Androgens