Analysis of Genitourinary Anomalies in Patients with Fanconi Aplastic Anemia

Autor: Hatice Şaşmaz, Yurdanur Kilinç, Aysun Karabay Bayazit, Ali Anarat, Bahriye Atmis, Engin Melek, Göksel Leblebisatan, Damla Altintaş
Rok vydání: 2018
Předmět:
Zdroj: Volume: 13, Issue: 5 387-390
Türkiye Çocuk Hastalıkları Dergisi
ISSN: 2148-3566
1307-4490
Popis: 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.
Amaç: Fankoni Aplastik Anemisi (FAA) kemik iliği yetmezliğine yol açan nadir görülen bir genetik hastalıktır. Kalıtsal kemik iliği yetmezliği sendromları arasında en sık görülendir. FAA’li hastaların yaklaşık üçte birinde genitoüriner sistem anomalileri görülmektedir. Bu anomaliler bu hastalardaki morbidite ve mortalitenin ana nedenlerinden birisi olan kronik böbrek hastalığına neden olabileceğinden dolayı ayrıntılı olarak araştırılmalıdır. Gereç ve Yöntemler: FAA’lı hastalarda genitoüriner malformasyonları değerlendirmek amacıyla Çukurova Üniversitesi Çocuk Hematoloji Bölümünde takip edilen, kemik iliği aspirasyonu ve mutasyon analizi ile tanı konmuş ve eşlik eden genitoüriner sistem anomalisi saptanan 11 hasta geriye dönük olarak incelendi. Hastalarda genitoüriner sistem anomalileri varlığı renal ultrasonografi, dimerkaptosüksinik asit (DMSA) sintigrafisi ve voiding sistoüretrogram ile tespit edildi. Bulgular: Genitoüriner sistem anomalisi olan FAA tanılı 11 hastanın 5’i (%45.5) kız, 6’sı (%54.5) erkekti. Yedisinde (%63.6) iki taraflı vezikoüreteral reflü (VUR), birinde (%9) tek taraflı VUR, dördünde (%36.4) tek taraflı renal agenezi, ikisinde (%18.2) ektopik böbrek, tespit edildi. Üç hastada (%27.2) temiz aralıklı kateterizasyon gerektiren nörojenik mesane saptandı. Bir hastada ise penil deformite ve üretral darlık vardı. Hastaların altısında (%54.5) tahmini glomerüler filtrasyon hızı (eGFR)
Databáze: OpenAIRE
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