Modern Pediatrics. Ukraine. 6 (110): 15-21. doi 10.15574/SP.2020.110.15
Makukh H. V.¹, Bober L. J.², Rohovyk N. V.^3,4, Lyga O. V.², Vashchuk O. I.^5
1SI «Institute of Hereditary Pathology of the Academy of Medical Sciences of Ukraine», Lviv, Ukraine
²Western Ukrainian Specialized Children's Medical Centre», Lviv, Ukraine
³Danylo Halytsky Lviv National Medical University, Lviv, Ukraine
⁴Anna Mazurenko Children's Health Centre, Lviv, Ukraine
⁵Yu. Lypa Lviv Regional Hospital for Disabled Veterans and Victims of Repressions, Lviv–Vynnyky, Ukraine

For citation: Makukh HV, Bober LJ, Rohovyk NV, Lyga OV, Vashchuk OI. (2020). The Cystic Fibrosis Patient Registry as a guarantee of effective disease management. Modern Pediatrics. Ukraine. 6(110): 15–21. doi 10.15574/SP.2020.110.15
Article received: Jul 08, 2020. Accepted for publication: Oct 07, 2020.

The aim of the study was to analyze the data of Ukrainian cystic fibrosis (CF) patients entered to the European Cystic Fibrosis Society Patient Registry (ECFSPR) during 2017–2018 years, and compare with the parameters entered in previous years.
Materials and methods. Using the computer program ecfstracker.eu, the clinical, paraclinical and molecular genetic data of CF patients were analyzed and their statistical analysis was performed.
Research results. Among 210 CF patients 49 alleles and 68 different genotypes of the CF transmembrane conductance regulator gene were identified. It was found that 57% of CF patients were homozygous for the F508del major mutation, and 31% — heterozygous. The ratio of the proportion of СF patients between children and adults (over 18 years) was 78% and 22%, with an increasing in the proportion of adult patients compared to previous years.
Conclusions. The entering data CF patients to the ECFSPR opens new opportunities for a comprehensive analysis of the disease at both on the regional (the center) and on the continental levels. Studying the experience and management of the disease based on the experience of 35 European countries (over 40,000 patients) will not only help to compare the data of Ukrainian patients, but also borrow the best monitoring and treatment schemes from European countries, which help to organize and optimize medical care in Ukraine.
No conflict of interest was declared by the authors.
Key words: The European Cystic Fibrosis Society Patient Registry, gene, genotype, DNA, molecular genetic research, cystic fibrosis, mutation, CFTR.

REFERENCES

1. Abbott J, Havermans T, Jarvholm S, Landau E, Prins Y, Smrekar U et al. (2019). Mental Health screening in cystic fibrosis centres across Europe. J Cyst Fibros. 18(2): 299-303. https://doi.org/10.1016/j.jcf.2018.09.003; PMid:30268370

2. Balzano J, Fresenius A, Walker P, Berdella M, Portenoy RK, Bookbinder M et al. (2016). Web-based Symptom Screening in Cystic Fibrosis Patients: A Feasibility Study. J Cyst Fibros. 15(1): 102-108. https://doi.org/10.1016/j.jcf.2015.11.001; PMid:26610859

3. Barben J, Rueegg CS, Jurca M, Spalinger J, Kuehni CE, Swiss Cystic Fibrosis Screening Group. (2016). Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis. J Cyst Fibros. 15(3): 313-317. https://doi.org/10.1016/j.jcf.2015.12.024; PMid:26826912

4. Bombieria C, Claustresb M, De Boeckc K, Derichsd N, Dodgee J, Girodonf E et al. (2011). Recommendations for the classification of diseases as CFTR related disorders. J Cyst Fibros. 10; Suppl. 2(2): 86-102.

5. Camajova J, Berwouts S, Matthijs G, Macek Jr M, Dequeker E. (2009). Variability in the use of CE marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories. Eur J Hum Genet. 17(4): 537-540. https://doi.org/10.1038/ejhg.2008.209; PMid:19050730 PMCid:PMC2986222

6. Castellani C, Cuppens H, Macek MJr, Cassiman JJ, Kerem E, Durie P et al. (2008). Consensus on the use and interpretatation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 7(3): 179-196. https://doi.org/10.1016/j.jcf.2008.03.009; PMid:18456578 PMCid:PMC2810954

7. Cystic Fibrosis Mutation Database. (2012). Available from: www.genet.sickkids.on.ca/cftr/

8. De Boeck K, Derichs N, Fajac I, de Jonge HR, Bronsveld I, Sermet I et al. (2011). New clinical diagnostic procedures for cystic fibrosis in Europe. J Cyst Fibros. 10; Suppl. 2: 53-66. https://doi.org/10.1016/S1569-1993(11)60009-X

9. Eakin MN, Chung S-En, Hoehn J, Borrelli B, Rand-Giovannetti D, Riekert KA. (2017). Development and Validation of CF-Medication Beliefs Questionnaire: A mixed-methods approach. J Cyst Fibros. 16(5): 637-644. https://doi.org/10.1016/j.jcf.2017.05.001; PMid:28549609 PMCid:PMC5581993

10. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR et al. (2008). Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 153(2): 4-14. https://doi.org/10.1016/j.jpeds.2008.05.005; PMid:18639722 PMCid:PMC2810958

11. Gibson LE, Cooke RE. (1959). A test for the concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 23(3): 545-549.

12. Green DM, McDougal KE, Blackman SM, Sosnay PR, Henderson LB, Naughton KM et al. (2010). Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients. Respir Res. 11(1): 140. https://doi.org/10.1186/1465-9921-11-140; PMid:20932301 PMCid:PMC2964615

13. Keenan K, Dupuis A, Griffin K, Castellani C, Tullis E, Gonska T. (2019). Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117Hi. J Cyst Fibros. 18(2): 265-270. https://doi.org/10.1016/j.jcf.2018.09.002; PMid:30279124

14. Kotha K, Szczesniak RD, Naren AP, Fenchel MC, Duan LL, McPhail GL, Clancy JP. (2015). Concentration of Fractional Excretion of Nitric Oxide (FENO): A Potential Airway Biomarker of Restored CFTR Function. J Cyst Fibros. 14(6): 733-740. https://doi.org/10.1016/j.jcf.2015.07.002; PMid:26210165

15. Lahiri T, Hempstead SE, Brady C, Cannon CL, Clar K, Condren ME et al. (2016). Clinical Practice Guidelines from the Cystic Fibrosis Foundation for Preschoolers with Cystic Fibrosis. Pediatrics. 137(4): e20151784. https://doi.org/10.1542/peds.2015-1784; PMid:27009033

16. Mc.Elvaney OJ, Gunaratnam C, Reeves EP, McElvaney NG. (2019). A Specialized Method of Sputum Collection and Processing for Therapeutic Interventions in Cystic Fibrosis. J Cyst Fibros. 18(2): 203-211. https://doi.org/10.1016/j.jcf.2018.06.001; PMid:29960875

17. Mc.Pherson MJ. (1993). PCR: a Practical Approach. New York: Oxford University press. 253.

18. Munck A, Mayell SJ, Winters V, Shawcross A, Derichs N, Parad R et al. (2015). Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros. 14(6): 706-713. https://doi.org/10.1016/j.jcf.2015.01.001; PMid:25630966

19. Pesce E, Gorrieri G, Sirci F, Napolitano F, Carrella D, Caci E et al. (2016). Evaluation of a systems biology approach to identify pharmacological correctors of the mutant CFTR chloride channel. J Cyst Fibros. 15(4): 425-435. https://doi.org/10.1016/j.jcf.2016.02.009; PMid:26971626

20. Rogan MP, Stoltz DA, Hornick DB. (2011). Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation specific treatment. Chest. 139(6): 1480-1490. https://doi.org/10.1378/chest.10-2077; PMid:21652558

21. Sawicki GS, Fink AK, Schechter MS, Loeffler DR, Mayer-Hamblett N. (2018). Rate and Predictors of Prescription of Lumacaftor – Ivacaftor in the 18 Months Following Approval in the United State. J Cyst Fibros. 17(6): 742-746. https://doi.org/10.1016/j.jcf.2018.08.007; PMid:30201329

22. Sole A, Olveira C, Perez I, Hervas D, Valentine V, Baca Yepez AN, Olveira G, Quittner A. (2018). Development and electronic validation of the revised Cystic Fibrosis Questionnaire (CFQ-R Teen/Adult): New tool for monitoring psychosocial health in CF. J Cyst Fibros. 17(5): 672-679. https://doi.org/10.1016/j.jcf.2017.10.015; PMid:29157922

23. Sosnay PR, Castellani C, Corey M, Dorfman R, Zielenski J, Karchin R et al. (2011). Evaluation of the disease liability of CFTR. Methods Mol Biol. 742: 355-372. https://doi.org/10.1007/978-1-61779-120-8_21; PMid:21547743

24. Tridello G, Menin L, Pintani E, Bergamini G, Assael BM, Melotti P. (2016). Nasal potential difference outcomes support diagnostic decisions in cystic fibrosis. J Cyst Fibros. 15(5): 579-582. https://doi.org/10.1016/j.jcf.2016.06.009; PMid:27423539

25. Tsui LC. (1995). The cystic fibrosis transmembrane conductance regulator gene. Am J Respir Crit Care Med. 151; 3; 2: S47-53. https://doi.org/10.1164/ajrccm/151.3_Pt_2.S47; PMid:7533605

26. Zastavna DV, Tyrkus MIa, Chorna LB, Makukh HV, Tretiak BI, vynakhidnyky. (2008, Apr 25). DU Instytut spadkovoi patolohii AMNU, patentovlasnyk. Method for separation of DNA from leucocytes of peripheral blood. (Sposib vydilennia DNK z leikotsytiv peryferiinoi krovi). Patent Ukrainy No. 32044.