1537 RENAL INVOLVEMENT IN FANCONI'S HYPOPLASTIC ANEMIA

Abstract

Fanconi's anemia is associated with multiple congenital anomalies. 28% of patients have renal abnormalities. We studied renal involvement in 2 boys and 3 girls aged 3-13 years with Fanconi's anemia. Chromosome numbers were normal but metaphases showed increased breaks and gaps in the 4 children studied. 3 children had significant growth retardation. 3 had enuresis. 1 girl had recurrent urinary infections. Initially, BP, BUN, serum creatinine, blood electrolytes, acid-base status, proteinuria, urinary concentration and acidification were normal in all. 3/4 IVPs were abnormal - bilateral small kidneys (one pelvic) with ureteric reflux (pt. 1); unilateral small kidney with ureteric reflux and clubbed calyces (pt. 2); small kidney with ureteric reflux and non-functioning small kidney on the opposite side (pt. 3). IVPs done at intervals showed no renal growth for 2 and 5 yr (pts. 2,3). Despite correction of low pressure reflux (pt. 3), renal failure was progressive. One girl (pt. 3) died awaiting renal transplant; 1 boy (pt. 4) died of unknown cause. Of the 3 children treated with androgens, 2 did not respond - 1 child died early in treatment, the other had advanced chronic renal failure. Conclusions: A variety of developmental renal abnormalities may be seen in Fanconi's anemia. Renal failure may be progressive. Anemia may respond poorly to androgen treatment if chronic renal failure is present.