• Cystic fibrosis in children. Early diagnosis as important predictor of treatment efficiency (clinical case)
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Cystic fibrosis in children. Early diagnosis as important predictor of treatment efficiency (clinical case)

PERINATOLOGY AND PEDIATRIC. UKRAINE. 2017.3(71):74-80; doi 10.15574/PP.2017.71.74

Berezenko V. S., Reznikov Yu. P., Krat V. V.
Bogomolets National Medical University, Kyiv, Ukraine
SI «Institute of Pediatrics, Obstetrics and Gynecology of NAMS of Ukraine», Kyiv

Cystic fibrosis is the most common lethal hereditary disease among whites in the world. Introduced in recent years neonatal screening simplifies postnatal diagnosis and almost impossible to detect advanced cases. It should be noted that in Ukraine there are technical problems with the implementation of screening in some regions. The article is an example of mixed cystic fibrosis, despite the presence of typical clinical course, anamnesis, but the lack of quality screening, delayed diagnosis has become a cause of serious complications that threaten life. It is therefore necessary to remember about the disease and to take into account family history and typical course in the formulation of the diagnosis.
Key words: cystic fibrosis; children; diagnosis, treatment.

References

1. Unified clinical protocols of primary, secondary (specialized) and tertiary (highly specialized) medical care to patients with cystic fibrosis. Approved by the Ministry of Health of Ukraine from 15.07.2016 year No.723. http://www.moz.gov.ua/ua/portal/dn_20160715_0723.html.

2. Alexander S et al. (2014). Clinical Guidelines: Care of Children with Cystic Fibrosis. Royal Brompton Hospital. Endorsed by the Medicines Management Board of Royal Brompton & Harefield NHS Foundation Trust. 6th edition. https://www.a_amr.org.ar/secciones/fibrosis_quistica/clinical_guidlines_royal_brompton.pdf.

3. Castellani C et al. (2008, May). Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 7(3): 179—196. — doi 10.1016/j.jcf.2008.03.009.

4. Drucy Borowitz et al. Cystic Fibrosis Foundation Evidence-Based Guidelines for Management of Infants with Cystic Fibrosis. http://sefq.es/CFF09GuidelinesInf.pdf.

5. Cystic fibrosis. Genetic home references. https://ghr.nlm.nih.gov/condition/cystic-fibrosis.

6. De Boeck K, Wilschanski M, Castellani C et al. (2006). Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 61: 627—635. https://doi.org/10.1136/thx.2005.043539; PMid:16384879 PMCid:PMC2104676

7. Smyth AR et al. European Cystic Fibrosis Society Standards of Care: Best Practice guidelines. https://www.ncbi.nlm.nih.gov/pubmed/24856775.

8. Farrell PM et al. (2008, Aug). Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report. J Pediatr. 153(2): S4—S14. — doi 10.1016/j.jpeds.2008.05.005.

9. Mickle JE, Cutting GR. (2000). Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am. 84: 597—607. https://doi.org/10.1016/S0025-7125(05)70243-1

10. Celia I. (2006, Sep). Newborn screening fact sheets. Kaye and the Committee on Genetics. Pediatrics. 118(3): e934—963. https://doi.org/10.1542/peds.2006-1783; PMid:16950973

11. Nick JA, Rodman DM. (2005). Manifestations of cystic fibrosis diagnosed in adulthood. Curr Opin Pulm Med. 11: 513—518. PMid:16217177

12. Kerem E, Corey M, Kerem BS et al. (1990). The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (delta F508). N Engl J Med. 323: 1517-1522. https://doi.org/10.1056/NEJM199011293232203; PMid:2233932