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.
Keywords
References
- 1. Mehta PA, Tolar J. Fanconi Anemia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, (eds). GeneReviews® [Internet]. Seattle (WA):University of Washington,Seattle 1993-2018. 2002 Feb 14 [updated 2017 Feb 23].
- 2. Alter BP, Young NS, Nathan DG, Oski FA. The bone marrow failure syndromes. In: Nathan DG, Oski FA (eds). Hematology of Infancy and Childhood. 4 th ed. Philadelphia: W.B. Saunders Co, 1993: 216-316.
- 3. Kerviler ED, Guermazi A, Zagdanski AM, Glucjman E, Frija J. The clinical and radiological features of Fanconi’s anemia. Clin Radiology 2000;55:340-5.
- 4. Schwartz GJ, Muñoz A, Schneider MF, Mak RH, Kaskel F, Warady BA, et al. New equations to estimate GFR in children with CKD. J Am Soc Nephrol 2009;20:629-37.
- 5. Limwongse C. Developmental Syndromes and Malformations of the Urinary Tract. In: Avner ED, Harmon VE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL, (eds). 7th ed. Berlin Heidelberg: Springer- Verlag, 2016:135-78.
- 6. Balaban İ, Yaralın N, Özkasap S, Kara A, Tunç B. Fankoni aplastik anemisi: 21 olgunun değerlendirilmesi. Türkiye Klinikleri J Pediatr 2008;17:15-21.
- 7. Altay Ç, Alikaşifoğlu M, Kara A, Tunçbilek E, Özbek N, Schroeder- Kurth TM. Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and nonFanconi anemia): Hacettepe experience. Clin Genet 1997;5:296-302.
- 8. Yalman N, Anak S, Biner B, Göksan B, Bilgen H, Can E ve ark. Fankoni aplastik anemisi olgularında takip ve tedavide karşılaşılan sorunlar. Türk Pediatri Arşivi 2002;37:144-9.
- 9. Lanzkowsky P. Manual of Pediatric Hematology and Oncology. 2nd ed. New York: Churchill Livingstone Inc, 1995:84-9.
- 10. Alter BP, Rosenberg PS. VACTERL H Association and Fanconi Anemia. Mol Syndromol 2013;4:87-93.
- 11. Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, et al. Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. Blood 2000:96;4064–70.
- 12. Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, et al. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005;137:55–8.
- 13. Vincent CL, Primack WA, Hipps J, Kasow KA. Sequential renal and bone marrow transplants in a child with Fanconi anemia. Pediatr Transplant 2016;20:146-50.
- 14. Miano M, Ginevri F, Nocera A, Dallorso S, Fontana I, Perfumo F, et al. Successful double bone marrow and renal transplantation in a patient with Fanconi anemia. Blood 2002;99:3482-3.
Abstract
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)<90ml/dk/1.73m2’di. Bir hastaya ise son dönem kronik böbrek hastalığı nedeniyle periton diyalizi yapılmaktaydı.
Sonuç:Fankoni aplastik anemisi yapısal bir aplastik anemi olup sıklıkla yaşamın ilk on yılında görülür. FAA ile ilgili doğumsal defektler arasında genitoüriner malformasyonlar oldukça sık görülür. Bizim çalışmamızda 11 Fankoni aplastik anemili hastada en sık rastlanan genitoüriner anomali %72.7 oranında vezikoüreteral reflü olarak belirlendi. Hastalarda renal anormallik bulunması FAA tedavisi için kemik iliği transplantasyonu yapılması durumunda gelişebilecek akut böbrek hasarı ve kronik böbrek hastalığı için risk faktörüdür ve dikkatli bir şekilde değerlendirilmelidir.
Keywords
References
- 1. Mehta PA, Tolar J. Fanconi Anemia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, (eds). GeneReviews® [Internet]. Seattle (WA):University of Washington,Seattle 1993-2018. 2002 Feb 14 [updated 2017 Feb 23].
- 2. Alter BP, Young NS, Nathan DG, Oski FA. The bone marrow failure syndromes. In: Nathan DG, Oski FA (eds). Hematology of Infancy and Childhood. 4 th ed. Philadelphia: W.B. Saunders Co, 1993: 216-316.
- 3. Kerviler ED, Guermazi A, Zagdanski AM, Glucjman E, Frija J. The clinical and radiological features of Fanconi’s anemia. Clin Radiology 2000;55:340-5.
- 4. Schwartz GJ, Muñoz A, Schneider MF, Mak RH, Kaskel F, Warady BA, et al. New equations to estimate GFR in children with CKD. J Am Soc Nephrol 2009;20:629-37.
- 5. Limwongse C. Developmental Syndromes and Malformations of the Urinary Tract. In: Avner ED, Harmon VE, Niaudet P, Yoshikawa N, Emma F, Goldstein SL, (eds). 7th ed. Berlin Heidelberg: Springer- Verlag, 2016:135-78.
- 6. Balaban İ, Yaralın N, Özkasap S, Kara A, Tunç B. Fankoni aplastik anemisi: 21 olgunun değerlendirilmesi. Türkiye Klinikleri J Pediatr 2008;17:15-21.
- 7. Altay Ç, Alikaşifoğlu M, Kara A, Tunçbilek E, Özbek N, Schroeder- Kurth TM. Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and nonFanconi anemia): Hacettepe experience. Clin Genet 1997;5:296-302.
- 8. Yalman N, Anak S, Biner B, Göksan B, Bilgen H, Can E ve ark. Fankoni aplastik anemisi olgularında takip ve tedavide karşılaşılan sorunlar. Türk Pediatri Arşivi 2002;37:144-9.
- 9. Lanzkowsky P. Manual of Pediatric Hematology and Oncology. 2nd ed. New York: Churchill Livingstone Inc, 1995:84-9.
- 10. Alter BP, Rosenberg PS. VACTERL H Association and Fanconi Anemia. Mol Syndromol 2013;4:87-93.
- 11. Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, et al. Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. Blood 2000:96;4064–70.
- 12. Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, et al. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005;137:55–8.
- 13. Vincent CL, Primack WA, Hipps J, Kasow KA. Sequential renal and bone marrow transplants in a child with Fanconi anemia. Pediatr Transplant 2016;20:146-50.
- 14. Miano M, Ginevri F, Nocera A, Dallorso S, Fontana I, Perfumo F, et al. Successful double bone marrow and renal transplantation in a patient with Fanconi anemia. Blood 2002;99:3482-3.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | ORIGINAL ARTICLES |
| Authors | |
| Publication Date | September 23, 2019 |
| Submission Date | April 2, 2018 |
| Published in Issue | Year 2019 Volume: 13 Issue: 5 |
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