{"id":1558,"date":"2024-09-17T15:15:00","date_gmt":"2024-09-17T12:15:00","guid":{"rendered":"https:\/\/pediatria-spisanie.eu\/2024\/09\/17\/kusno-diagnosticirana-mukoviscidoza\/"},"modified":"2025-05-18T21:50:35","modified_gmt":"2025-05-18T18:50:35","slug":"kusno-diagnosticirana-mukoviscidoza","status":"publish","type":"post","link":"https:\/\/pediatria-spisanie.eu\/en\/2024\/09\/17\/kusno-diagnosticirana-mukoviscidoza\/","title":{"rendered":"Late Diagnosed Cystic Fibrosis – Three Clinical Cases from our Practice"},"content":{"rendered":"\n\n\t\t
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I. Todorova-Stefanova, M. Baycheva, V. Papochieva, N. Yaneva, S. Mileva, D. Miteva, G. Petrova <\/h3>\n

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Abstract<\/h2>\n\n\n\n

Cystic fibrosis (CF) is a complex autosomal recessive disease, affecting the functions of the respiratory
system, digestive tract and all exocrine glands. Grace to the scientific and technical progress in medicine in most countries CF is diagnosed through neonatal screening (NS) and cases of late diagnosis are rarely
reported. In Bulgaria, the introduction of the NC for CF is pending, and to date, the discovery of new cases is mainly based on a good clinical training and focused thinking of pediatricians.
We present three cases of children diagnosed with CF relatively late. The first case is a 14-year-old girl, treated for years for asthma and allergic cough by different specialist, and only after pneumonia for which computed tomography was performed and bronchiectasis were found, the diagnosis was reassessed as CF.
The second case is of a 10-year-old boy with a chronic cough of 2 years and recurrent bronchial
obstructions, referred for evaluation of bronchial asthma. The physical exam and boy\u2019s specific cough were our grounds for investigation and confirmation of CF.
The third case is an 11-year-old girl with chronic cough, neglected as a symptom from the parents and
the general practitioner was consulted with an endocrinologist due to short stature and possibly starting
growth hormone replacement therapy. The endocrinologist, noticing the presence of drum-stick fingers and wet cough, referred the child to a CF specialist. In the light of the availability of the new modern therapies it is required all pediatric specialists to make maximum efforts for early diagnosis of children with CF and increase awareness among doctors about this problem.
Key words:<\/strong> failure to thrive, bronchiectasis, neonatal screening<\/p>\n\n\n

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Bibliograhy<\/strong><\/h2>\n\n\n\n
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  1. Cruz I, Marciel KK, Quittner AL, Schechter MS. Anxiety and depression in cystic fibrosis. Semin Respir Crit Care Med. 2009 Oct;30(5):569-78. doi: 10.1055\/s-0029-1238915<\/li>\n\n\n\n
  2. Loebinger MR, Bilton D, Wilson R. Upper airway 2: Bronchiectasis, cystic fibrosis and sinusitis. Thorax. 2009 Dec;64(12):1096-101. doi: 10.1136\/thx.2008.112870<\/li>\n\n\n\n
  3. Flume PA, Van Devanter DR. State of progress in treating cystic fibrosis respiratory disease. BMC Med. 2012 Aug 10;10:88. doi: 10.1186\/1741-7015-10-88.<\/li>\n\n\n\n
  4. Siwamogsatham O, Alvarez JA, Tangpricha V. Diagnosis and treatment of endocrine comorbidities in patients with cystic fibrosis. Curr Opin Endocrinol Diabetes Obes. 2014 Oct;21(5):422-9. doi: 10.1097\/MED.0000000000000096<\/li>\n\n\n\n
  5. Kappler M, Espach C, Schweiger-Kabesch A, Lang T, Hartl D, Hector A, Glasmacher C, Griese M. Ursodeoxycholic acid therapy in cystic fibrosis liver disease–a retrospective long-term follow-up case-control study. Aliment Pharmacol Ther. 2012 Aug;36(3):266-73. doi: 10.1111\/j.1365-2036.2012.05177.x.<\/li>\n\n\n\n
  6.   ECFSPR Annual Report 2021, Orenti A, Zolin A, Jung A, van Rens J et al, 2023<\/li>\n\n\n\n
  7. Ratner D, Mueller C. Immune responses in cystic fibrosis: are they intrinsically defective? Am J Respir Cell Mol Biol. 2012 Jun;46(6):715-22. doi: 10.1165\/rcmb.2011-0399RT.<\/li>\n\n\n\n
  8. Dodge JA, Turck D. Cystic fibrosis: nutritional consequences and management. Best Pract Res Clin Gastroenterol. 2006;20(3):531-46. doi: 10.1016\/j.bpg.2005.11.006.<\/li>\n\n\n\n
  9. Cystic Fibrosis Trust. Cystic fibrosis treatments and medications. Available at: https:\/\/www.cysticfibrosis.org.uk\/what-is-cystic-fibrosis\/cystic-fibrosis-care\/treatments-and-medication. \u041f\u043e\u0441\u0435\u0442\u0435\u043d\u0430 \u043c\u0430\u0440\u0442 2024 \u0433.<\/li>\n\n\n\n
  10. \u0412. \u041d\u0435\u0434\u043a\u043e\u0432\u0430, \u041a\u043b\u0438\u043d\u0438\u0447\u043d\u0430 \u0445\u0430\u0440\u0430\u043a\u0442\u0435\u0440\u0438\u0441\u0442\u0438\u043a\u0430 \u043d\u0430 \u043f\u0430\u0446\u0438\u0435\u043d\u0442\u0438 \u0441 \u043c\u0443\u043a\u043e\u0432\u0438\u0441\u0446\u0438\u0434\u043e\u0437\u0430, \u0441\u043f. Medinfo 2013, \u0431\u0440\u043e\u0439 12,   \u0441. 33-34<\/li>\n\n\n\n
  11. O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009 May 30;373(9678):1891-904. doi: 10.1016\/S0140-6736(09)60327-5.<\/li>\n\n\n\n
  12. Elborn JS. Cystic fibrosis. Lancet. 2016 Nov 19;388(10059):2519-2531. doi: 10.1016\/S0140-6736(16)00576-6.<\/li>\n\n\n\n
  13. Yankaskas JR, Marshall BC, Sufian B, Simon RH, Rodman D. Cystic fibrosis adult care: consensus conference report. Chest. 2004 Jan;125(1 Suppl):1S-39S. doi: 10.1378\/chest.125.1_suppl.1s.<\/li>\n\n\n\n
  14. \u0420. \u041c\u0430\u0440\u043a\u043e\u0432\u0430, \u0412. \u0418\u0441\u0430\u0435\u0432, \u0420. \u041a\u0430\u0431\u0430\u043a\u0447\u0438\u0435\u0432\u0430 \u0411\u0435\u043b\u043e\u0434\u0440\u043e\u0431\u043d\u0438 \u0445\u0435\u043c\u043e\u0440\u0430\u0433\u0438\u0438 \u043f\u0440\u0438 \u043c\u0443\u043a\u043e\u0432\u0438\u0441\u0446\u0438\u0434\u043e\u0437\u0430 – \u043a\u043b\u0438\u043d\u0438\u043a\u043e-\u0442\u0435\u0440\u0430\u043f\u0435\u0432\u0442\u0438\u0447\u0435\u043d \u043f\u043e\u0434\u0445\u043e\u0434, \u0441\u043f. \u041f\u0435\u0434\u0438\u0430\u0442\u0440\u0438\u044f 56, 2016, \u0431\u0440\u043e\u0439 2, \u0441. 35-37  <\/li>\n\n\n\n
  15. Castellani C, Bonizzato A, Cabrini G, Mastella G. Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr. 1997;86(5):497\u2013502.<\/li>\n\n\n\n
  16. Pederzini F, Cabrini G, Faraguna D, Giglio L, Mengarda G, Pedrotti D, Mastella G. Neonatal screening for cystic fibrosis using blood trypsin with complementary meconium lactase: an advisable strategy for the population of southern Europe. Screening. 1995;3(4):173\u2013179.<\/li>\n\n\n\n
  17. De Boeck K, Vermeulen F, Dupont L. The diagnosis of cystic fibrosis. Presse Med. 2017 Jun;46(6 Pt 2): e97-e108. doi: 10.1016\/j.lpm.2017.04.010.<\/li>\n\n\n\n
  18. Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016\/j.jcf.2022.09.012.<\/li>\n\n\n\n
  19. Driscoll SJ, Heinz K, Goddard P, Desai M, Gilchrist FJ. Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region. Arch Dis Child. 2023 Nov 16:archdischild-2023-325955<\/li>\n<\/ol>\n\n\n
    <\/div>\n\n\n\n

    Address for correspondence:<\/strong><\/p>\n\n\n\n

    Department of Pediatrics, University Hospital \u201cAlexandrovska\u201d – Sofia
    1, \u201cSv. G. Sofiisky\u201d, Blvd.
    1431, Sofia, Bulgaria
    e-mail:     ina.todorovastefanova@gmail.com<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

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