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: Childhood, Fanconi aplastic anemia

References

  1. 1. Mehta PA, Tolar J. Fanconi Anemia. In: Adam MP, Ardinger
  2. HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya
  3. A, (eds). GeneReviews® [Internet]. Seattle (WA):University of
  4. Washington,Seattle 1993-2018. 2002 Feb 14 [updated 2017 Feb
  5. 23].
  6. 2. Alter BP, Young NS, Nathan DG, Oski FA. The bone marrow failure
  7. syndromes. In: Nathan DG, Oski FA (eds). Hematology of Infancy
  8. and Childhood. 4 th ed. Philadelphia: W.B. Saunders Co, 1993:
  9. 216-316.
  10. 3. Kerviler ED, Guermazi A, Zagdanski AM, Glucjman E, Frija J.
  11. The clinical and radiological features of Fanconi’s anemia. Clin
  12. Radiology 2000;55:340-5.
  13. 4. Schwartz GJ, Muñoz A, Schneider MF, Mak RH, Kaskel F, Warady
  14. BA, et al. New equations to estimate GFR in children with CKD. J
  15. Am Soc Nephrol 2009;20:629-37.
  16. 5. Limwongse C. Developmental Syndromes and Malformations of
  17. the Urinary Tract. In: Avner ED, Harmon VE, Niaudet P, Yoshikawa
  18. N, Emma F, Goldstein SL, (eds). 7th ed. Berlin Heidelberg: Springer-
  19. Verlag, 2016:135-78.
  20. 6. Balaban İ, Yaralın N, Özkasap S, Kara A, Tunç B. Fankoni aplastik
  21. anemisi: 21 olgunun değerlendirilmesi. Türkiye Klinikleri J Pediatr
  22. 2008;17:15-21.
  23. 7. Altay Ç, Alikaşifoğlu M, Kara A, Tunçbilek E, Özbek N, Schroeder-
  24. Kurth TM. Analysis of 65 Turkish patients with congenital aplastic
  25. anemia (Fanconi anemia and nonFanconi anemia): Hacettepe
  26. experience. Clin Genet 1997;5:296-302.
  27. 8. Yalman N, Anak S, Biner B, Göksan B, Bilgen H, Can E ve ark.
  28. Fankoni aplastik anemisi olgularında takip ve tedavide karşılaşılan
  29. sorunlar. Türk Pediatri Arşivi 2002;37:144-9.
  30. 9. Lanzkowsky P. Manual of Pediatric Hematology and Oncology. 2nd
  31. ed. New York: Churchill Livingstone Inc, 1995:84-9.
  32. 10. Alter BP, Rosenberg PS. VACTERL H Association and Fanconi
  33. Anemia. Mol Syndromol 2013;4:87-93.
  34. 11. Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, et
  35. al. Association of complementation group and mutation type with
  36. clinical outcome in fanconi anemia. European Fanconi Anemia
  37. Research Group. Blood 2000:96;4064–70.
  38. 12. Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M,
  39. Thauvin-Robinet C, et al. Should chromosome breakage studies
  40. be performed in patients with VACTERL association? Am J Med
  41. Genet A 2005;137:55–8.
  42. 13. Vincent CL, Primack WA, Hipps J, Kasow KA. Sequential renal and
  43. bone marrow transplants in a child with Fanconi anemia. Pediatr
  44. Transplant 2016;20:146-50.
  45. 14. Miano M, Ginevri F, Nocera A, Dallorso S, Fontana I, Perfumo F, et
  46. al. Successful double bone marrow and renal transplantation in a
  47. patient with Fanconi anemia. Blood 2002;99:3482-3.

Copyright and license

How to cite

1.
Atmış B. Analysis of Genitourinary Anomalies in Patients with Fanconi Aplastic Anemia. Turk J Pediatr Dis [Internet]. 2019 Sep. 23 [cited 2025 May 24];13(5):387-90. Available from: https://turkjpediatrdis.org/article/view/579