- Nonclassical course of «classical» mutation of the cystic fibrosis transmembrane conductance regulator gene (clinical case)
Nonclassical course of «classical» mutation of the cystic fibrosis transmembrane conductance regulator gene (clinical case)
SOVREMENNAYA PEDIATRIYA.2019.1(97):82-88; doi 10.15574/SP.2019.97.82
Bezrukov L. О., Ortemenka Ye. P., Sichkar І. B.
Bukovinian State Medical University, Chernivtsi, Ukraine
Regional Children's Clinical Hospital, Chernivtsi, Ukraine
Cystic fibrosis is an hereditary monogenic autosomal recessive disease characterized by the development of universal exocrinopathy and futher secondary changes, mainly in the organs of respiratory and gastrointestinal systems due to mutation of the Cystic fibrosis transmembrane conductance regulator gene. Often the genotype of cystic fibrosis patients determines not only the onset of the disease's first manifestations, the character and the combination of clinical signs, but also the severity of the disease and its the prognosis.
Key words: cystic fibrosis, genotype, clinical manifestations.
1. Aryayev ML, Kononenko NA, Starets OO, Tsyunchik UG, Shapovalov OG, Liman OG et al. (2002). Diagnosis, treatment and prevention of cystic fibrosis (Methodical recommendations). http://www.ibis-birthdefects.org/start/ukrainian/ucysfib2.htm.
2. Baranov AA, Namazova-Baranova LS, Simonova OI, Kashirskaya NU, Kondratieva EI, Gorinova SE, et al. (2016). Clinical recommendations of the Ministry of Health of the Russian Federation Cystic fibrosis (mukovistsidozis) in children. www.pediatr-russia.ru/sites/default/files/file/kr_mv.pdf.
3. Vasilieva NV, Avetisyan LR, Bogomolov TC, Kashirskaya NU, Klimko NN et al. (2018). Clinical recommendations of the Ministry of Health of the Russian Federation Cystic fibrosis (mukovistsidozis): microbiological diagnosis of chronic respiratory infection. http://www.antibiotic.ru/minzdrav/files/docs/clrec-cystic-fibrosis-2018-project.pdf
4. Kapranov NO, Kashirskaya NU. (2014). Cystic fibrosis. Moscow: Medpraktika-M: 672.
5. Kapranov NO, Shabalova LA, Kashirskaya NU, Voronkova AY, Blistinova ZA, Lubskaya TV, Osipova IA, Kapranov AN. (2001). Cystic fibrosis (Modern achievements and problems). Methodical recommendations. Moscow: Medpraktika-M: 76.
6. Heap S, Griffiths P, Elborn S, Harris B, Wayte A, Wallis CE. (2014). Guidelines for the Performance of the Sweat Test for the Investigation of Cystic Fibrosis in the UK 2nd Version. An Evidence Based Guideline. http://www.acb.org.uk/docs/default-source/committees/scientific/guidelines/acb/sweat-guideline-v2-1.pdf
7. Mehtaa G, Macek MJ, Mehtaa A (2010). Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries. Journal of Cystic Fibrosis. 9:5—21. https://doi.org/10.1016/j.jcf.2010.08.002; PMid:21041121
8. Mogayzel PJ, Naureckas ET, Robinson KA et al. (2013). Cystic Fibrosis Pulmonary Guidelines. Chronic medications for maintenance of lung health. Am J Respir Crit Care Med. 187(7): 680a689.
Article received: Sep 17, 2018. Accepted for publication: Feb 02, 2019.