Congenital Gastrointestinal Anomalies and their Associations to Genetic Disorders
Authore(s) : Aurel Vula Pediatrician Division of General PediatryPediatric Rheumatology and CardiologyDepartment of PediatricsUniversity Hospital Centre "Mother Teresa"TiranaAlbania
Volume : (7), Issue : 7, July - 2018
Abstract : Congenital anomalies of the digestive tract are an important part of congenital anomalies as they constitute one of the main causes of mortality in children. The aim of this study was to evaluate the most common digestive anomaly associated with genetic disorders. We also sought to ascertain the most frequent genetic disorder in our patients and its connection to mortality, the average age of diagnosis, prenatal diagnosis, gestacional age and associations with other organ anomalies. The study was conducted in two phases and includes a total of 273 children diagnosed with Congenital anomalies of the digestive tract, presented at the Pediatric Intensive Care Unit in UHC “Mother Teresa”. The first phase, retrospective, includes 137 patients during the period January 2006 – December 2010. The second phase of the study, prospective, includes 136 patients from January 2011 - March 2015. The most frequent digestive anomaly in patients with genetic disorders was Anal atresia (39.40%), followed by Omphalocele and Intestinal atresia (15.10%). Down syndrome was the most frequent genetic disorder,9 cases (3.30%). It is important to identify cases associated to genetic disordes because they condition patient’s managment and prognosis. Anomalies that are often associated with other defects have shown early clinical symptoms and require more time and effort for correction.
Keywords :Congenital gastrointestinal anomalies, newborn babies, genetic disorders, age of diagnosis, associated organ anomalies
Article: Download PDF Journal DOI : 21/275
Cite This Article:
Congenital Gastrointestinal Anomalies and their Associations to Genetic Disorders
Vol.I (7), Issue.I 7
Article No : 20144
Number of Downloads : 100
References :
Fotis, Lampros, Burns, Alan J, and Thapar, Nikhil (Aug 2012) Gastrointestinal Tract: Congenital Abnormalities. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0002138.pub2]
Merck Sharp & Dohme Corp., a subsidiary of Merck &Co., Inc., Kenilworth, NJ, USA
Bilious vomiting in the newborn: Rapid diagnosis of Inte stinal obstruction. Ken Kimura, M.D., and Vera Loening-Baucke, M.D.,... More
- Fotis, Lampros, Burns, Alan J, and Thapar, Nikhil (Aug 2012) Gastrointestinal Tract: Congenital Abnormalities. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0002138.pub2]
- Merck Sharp & Dohme Corp., a subsidiary of Merck &Co., Inc., Kenilworth, NJ, USA
- Bilious vomiting in the newborn: Rapid diagnosis of Inte stinal obstruction. Ken Kimura, M.D., and Vera Loening-Baucke, M.D., University of Iowa College of Medicine, Iowa City, Iowa. Am Fam Physician. 2000 May 1; 61(9):2791-2798
- genome.gov/19016930/faq-about-geneticdisorders/
- Digestive malformation and their associations to syndrome condition and genetic defects, Enríquez Zarabozo E, Blesa Sánchez E, Ayuso Velasco R, Galán Gómez E
- genetics.utah.edu/content/disorders/screening/
- Intestinal malformation and congenital heart diseases. Voisin M, Galifer RB, Kadiri T, Grolleau R, Dumas R. Jean R. Arech Coeur Vaiss. 1987 Apr; 80(4):524-8.
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- Fotis, Lampros, Burns, Alan J, and Thapar, Nikhil (Aug 2012) Gastrointestinal Tract: Congenital Abnormalities. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0002138.pub2]
- Merck Sharp & Dohme Corp., a subsidiary of Merck &Co., Inc., Kenilworth, NJ, USA
- Bilious vomiting in the newborn: Rapid diagnosis of Inte stinal obstruction. Ken Kimura, M.D., and Vera Loening-Baucke, M.D., University of Iowa College of Medicine, Iowa City, Iowa. Am Fam Physician. 2000 May 1; 61(9):2791-2798
- genome.gov/19016930/faq-about-geneticdisorders/
- Digestive malformation and their associations to syndrome condition and genetic defects, Enríquez Zarabozo E, Blesa Sánchez E, Ayuso Velasco R, Galán Gómez E
- genetics.utah.edu/content/disorders/screening/
- Intestinal malformation and congenital heart diseases. Voisin M, Galifer RB, Kadiri T, Grolleau R, Dumas R. Jean R. Arech Coeur Vaiss. 1987 Apr; 80(4):524-8.