Komplikasyonlari ile VACTERL Asosiasyonu

Abstract

VACTERL asosiasyonu; vertebral, anorektal, kardiyak, trakeoözafagial, renal ve ekstremite anomalilerinden en az üç tanesinin birarada olduğu 1/10000-1/40000 sıklıkta saptanan bir klinik durumdur. Spesifik bir etiyoloji tanımlanmamıştır ve tanı klinik bulgulara dayanır. Bu makalede, VACTERL asosiyasyonu gözden geçirilmiş ve yineleyen trakeoözofagial fistül ve havayolu hiperreaktivitesi olan 18 aylık erkek olgunun sunumu ile klinik bulgular ve komplikasyonların izlemi vurgulanmıştır.

Keywords

• Trakeoözafagial fistül, VACTERL asosiyasyonu

VACTERL Association and Its Complications

Abstract

VACTERL association is a clinical condition, detected at a frequency of 1/10000-1/40000, in which at least three of vertebral, anorectal, cardiac, tracheoesophageal, renal and extremity anomalies coexist. No specifi c etiology has been described and the diagnosis is based upon clinical fi ndings. In this article, the VACTERL association was reviewed and follow up of clinical fi ndings and complications were presented by reporting an 18-month-old male with recurrence of tracheoesophageal fi stula and hyperreactive airway disease

Keywords

• Tracheoesophageal fi stula, VACTERL association

References

1. Solomon BD. VACTERL/VATER Association. Orphanet Journal of Rare Diseases 2011; 6:56.
2. La Placa S, Giuffrè M, Gangemi A, Di Noto S, Matina F, Nociforo F, et al. Esophageal atresia in newborns: A wide spectrum from the isolated forms to a full VACTERL phenotype? Italian Journal of Pediatrics 2013; 39:45.
3. Dane B, Kayaoğlu Z, Dane C, Aksoy F. VACTERL-H Syndrome: First trimester diagnosis. J Turkish German Gynecol Assoc 2012; 12:4:266-9.
4. Quan L, Smith DW. The VATER association: Vertebral defects, anal atresia, tracheoesophageal fi stula with esophageal atresia, radial dysplasia. In: Bergsma D (ed). The Clinical Delineation of Birth Defects. Vol: XII. G.I. Tract Including Liver and Pancreas. Baltimore: Williams and Wilkins, 1972:75-8.
5. Quan L, Smith DW. The VATER association. Vertebral defects, Anal atresia, T-E fi stula with esophageal atresia, Radial and Renal dysplasia: A spectrum of associated defects. J Pediatr 1973; 82:104-7.
6. Temtamy SA, Miller JD. Extending the scope of the VATER association: Defi nition of the VATER syndrome. J Pediatr 1974; 85:345-9.
7. Nora AH, Nora JJ. A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 1975; 30:17-21.
8. Källén K, Mastroiacovo P, Castilla EE, Robert E, Källén B. VATER non-random association of congenital malformations: Study based on data from four malformation registers. Am J Med Genet 2001; 101:26-32.

9. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, et al. The spectrum of congenital anomalies of the VATER association an international study. Am J Med Genet 1997; 71:8-15.
10. Rittler M, Paz JE, Castilla EE. VACTERL association, epidemiologic defi nition and delineation. Am J Med Genet 1996;63:529-36.
11. Solomon BD, Raam MS, Pineda-Alvarez DE. Analysis of genitou- rinary anomalies in patients with VACTERL (Vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fi stula, renal anomalies, Limb abnormalities) Association. Congenit Anom (Kyoto) 2011; 51:87-91.
12. Lawhon SM, MacEwen GD, Bunnell WP. Orthopaedic aspects of the VATER association. J Bone Joint Surg Am 1986;68:424-9.
13. Weaver DD, Mapstone CL, Yu PL. The VATER association. Analysis of 46 patients. Am J Dis Child 1986;140:225-9.
14. Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, Vélez JI, et al. Analysis of component fi ndings in 79 patients diagnosed with VACTERL association. Am J Med Genet A 2010; 152A:2236-44.