Congenital and hereditary diseases of respiratory tract from genetician’s view
Authors:
M. Mistrík
Authors‘ workplace:
Ambulancie lekárskej genetiky, Alpha medical, Spišská Nová Ves, Prešov, Slovensko
Published in:
Čes-slov Pediat 2020; 75 (1): 16-19.
Category:
Overview
As in each clinical specialty of medicine, also in pneumology there are diseases with main etiology in genetic equipment of individual or in prenatally affecting external factor. The rapid development of medical genetics helps in diagnostics and partially in therapy. This group of diseases will be mentioned in next article.
Keywords:
Cystic fibrosis – pneumology – alpha-1 antitrypsin deficiency
Sources
1. Dluholucký S, Knapková M. Ročná správa novorodeneckého skríningu za rok 2014. Banská Bystrica: Skríningové centrum novorodencov SR, Detská fakultná nemocnica s poliklinikou, 2015.
2. Kliegman RM, Stanton BF, St Geme JW, Schor NF. Nelson Textbook of Pediatrics, 20th ed. Elsevier, 2016: 2006–2008e1, 2036–2039e3, 2053–-2053e1, 2057–2061e2, 2098–2113e2, 2113–2116e1.
3. McIntosh N, Helms PJ, Smyth RL, Logan S. Forfar and Arneil´s Textbook of Paediatrics. 7th ed. Elsevier, 2008: 657–742.
4. Wilmott RW, Boat TF, Bush A, et al. Kendig and Chernick´s Disorders of the Respiratory Tract in Children. 8th ed. Saunders, 2012: 317–357.
5. www.genereviews.org.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2020 Issue 1
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