Fanconi aplastic anaemia is a rare genetic disease which causes bone marrow failure. As a multisystem disease affecting almost every organ system, it demonstrates a wide spectrum of clinical manifestations. Renal malformations which are leading to end stage renal disease can be one of the major causes of morbidity and mortaility in these patients. So it is very important to investigate these children for genitourinary tract anomalies.
Eleven patients with fanconi aplastic anaemia with renal anomalies were analized. Five of them were girls and six of them were boys. Of these 11 patients, 4 patients (63.6%) had unilateral vesicoureteral reflux (VUR) and 3 of them had higher grade bilateral (IV-V) VUR. Two patients (18%) had ectopic kidney, 4 patients (36%) had unilateral renal agenesis. Three patients (27%) needed clean intermittent catheterization for neurogenic bladder. One of the patients had penil deformity and urethral stricture. Four of the patients has predicting glomerular filtration rate lower than 60 ml/dk/1.73 m2 which demonstrates advanced stage chronic renal failure. One of them had end stage renal failure and followed on chronic peritoneal dialysis treatment.
Genitourinary anomalies are frequently encountered in patients with fanconi aplastic anaemia. It is important to follow up of patients with fanconi aplastic anaemia in terms of the risk of chronic kidney disease.