Fankoni Aplastik Anemili Çocuklarda Genitoüriner Sistem Anomalileri

Abstract

Objective: Fanconi aplastic anemia (FAA) is a rare genetic disease that causes bone marrow failure. It is the most common bone marrow failure syndrome among the hereditary bone marrow failure syndromes. Genitourinary system anomalies occur in about one third of patients with FAA. Renal malformations that can lead to end stage chronic kidney disease can be one of the major causes of morbidity and mortality in these patients and requires detailed review. Material and Methods: In order to evaluate genitourinary system malformations in FAA patients, eleven FAA patients who were diagnosed with bone marrow aspiration and mutation analysis, accompanied by genitourinary system anomalies, and followed at Cukurova University Department of Pediatric Hematology were retrospectively analyzed, The presence of genitourinary system anomalies were detected by renal ultrasonography, dimercaptosuccinic acid (DMSA) scintigraphy and voiding cystourethrogram. Results: Five of the eleven patients with FAA were girls (45.5%) and six of them were boys (54.5%). Seven patients (63.6%) had bilateral vesicoureteral reflux (VUR) and one patient (9%) had unilateral VUR. Four patients (36.4%) had unilateral renal agenesis and two patients (18.2%) had an ectopic kidney. Three patients (27.2%) had neurogenic bladder requiring clean intermittent catheterization. One of the patients had a penile deformity and urethral stricture. Six of the patients had an estimated glomerular filtration rate lower than 90 ml/min/1.73 m2. One of them had end stage chronic kidney disease and was receiving chronic peritoneal dialysis treatment. Conclusion: FAA is a constitutional aplastic anemia and is often seen in the first decade of life. Among the congenital defects associated with FAA, genitourinary malformations are quite common. In our study, the most common genitourinary anomaly was vesicoureteral reflux and found in 72.7% of the 11 FAA patients. The presence of a renal abnormality in these patients is also a risk factor after bone marrow transplantation and may lead to acute kidney injury and chronic kidney disease. These patients should therefore be carefully assessed.