What disease can be hidden behind a diagnosis of atypical cystic fibrosis?

Česká verze

Authors: L. Marušiaková ¹; P. Ďurdík ¹; I. Bacmaňáková ¹; Z. Sňahničanová ¹; L. Šofranková ¹; O. Petrovičová ¹; M. Kuchta ²; J. Buchanec ¹
Authors place of work: Klinika detí a dorastu, Univerzita Komenského v Bratislave, Jesseniova lekárska fakulta v Martine, Martin prednosta prof. MUDr. P. Bánovčin, CSc. ¹; Klinika detí a dorastu, Univerzita Pavla Jozefa Šafárika v Košiciach, Lekárska fakulta, Košice prednostka doc. MUDr. I. Schusterová, PhD. ²
Published in the journal: Čes-slov Pediat 2016; 71 (2): 80-86.
Category: Kazuistika

Summary

What disease can be hidden behind a diagnosis of atypical cystic fibrosis?

In our case report we present 11-year-old girl treated by pulmonologist for atypical cystic fibrosis with pulmonary manifestations. Since birth she has been suffering from recurrent respiratory infections, chronic wet cough and persistent accumulation of thick mucus. She has a mild obstructive ventilatory defect and bronchiectasis in the right middle lobe of the lung.

In this case report we want to point out the similarity of clinical signs of congenital diseases affecting mucociliary clearance and the importance and possibilities of differential diagnosis.

Key words:
mucociliary clearance, atypical cystic fibrosis, primary ciliary dyskinesia, high-speed video microscopy

Zdroje

1. Balaščaková M, Piskáčková T, Holubová A, et al. Současné metodické postupy a přehled preimplantační, prenatální a postnatální DNA diagnostiky cystické fibrózy v České republice. Čes-slov Pediat 2008;63 (2): 62–75.

2. Ďurdíková V, Gajanová J, Babčanová E. Nefarmakologická terapia bronchopulmonálneho postihnutia u detí s cystickou fibrózou. Pediatria (Bratisl) 2008;3 (5): 273–276.

3. Livraghi A, Randell SH. Cystic fibrosis and other respiratory diseases of impaired mucus clearance. Toxicol Pathol 2007; 35 (1): 116–129.

4. Schram CA. Atypical cystic fibrosis: identification in the primary care setting. Can Fam Physician 2012; 58 (12): 1341–1345.

5. Kayserová H. Cystická fibróza. Via pract 2007; 4 (3): 128–132.

6. Vávrová V, et al. Cystická fibróza. 1. vyd. Praha: Grada Publishing, 2005.

7. Wilschanski M, Famini H, Strauss-Liviatan N, et al. Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 2001; 17 (6): 1208–1215.

8. Mall MA, Elborn JS. Cystic Fibrosis. ERS Monograph 2014; 64: 1–47.

9. Fahy JV, Dickey BF. Airway mucus function and dysfunction. N Engl J Med. 2010; 363 (23): 2233–2247.

10. Munkholm M, Mortensen J. Mucociliary clearance: pathophysiological aspects. Clin Physiol Funct Imaging 2014; 34 (3): 171–177.

11. Plaza-Valía P, Carrión-Valero F, Marín-Pardo J, et al. Saccharin test for the study of mucociliary clearance: Reference values for a Spanish population. Arch Bronconeumol 2008; 44 (10): 540–545.

12. Leigh MW, Pittman JE, Carson JL, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 2009; 11 (7): 473–487.

13. Strippoli MP, Frischer T, Barbato A, et al. Management of primary ciliary dyskinesia in European children: recommendations and clinical practice. Eur Respir J 2012; 39 (6): 1482–1491.

14. Jeseňák M, Majtán J, Rennerová Z, et al. Immunomodulatory effect of pleuran (β-glucan from Pleurotus ostreatus) in children with recurrent respiratory tract infections. Int Immunopharmacol 2013; 15 (2): 395–399.

15. Jeseňák M, Bánovčin P, Rennerová Z, et al. Reproducibility of food atopy patch tests over time in the general child population. Int J Dermatol 2009; 48 (9): 941–946.

16. Djakow J, O‘Callaghan C. Primary ciliary dyskinesia. Breathe 2014; 10 (2): 122–133.

17. Kurkowiak M, Zietkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015; 52 (1): 1–9.

18. Marshall CR, Scherer SW, Zariwala MA, et al. Whole Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda) 2015 Jul 2; 5 (8): 1775–1781. doi: 10.1534/g3.115.019851.

19. Knowles MR, Daniels LA, Davis SD, et al. Primary ciliary dyskinesia: Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013; 188 (8): 913–922.

20. Orosová J. Primárna ciliárna dyskinézia (syndróm imotílnych cílií, Kartagenerov syndróm). Pediatr prax 2011; 12 (1): 7–11.

21. Raidt J, Wallmeier J, Hjeij R, et al. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J 2014; 44 (6): 1579–1588.

22. Sagel SD, Davis SD, Campisi P, et al. Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc Am Thorac Soc 2011; 8 (5): 438–443.

23. Ďurdík P, Bánovčin P. Primary ciliary dyskinesia – current therapeutic approach. In: Jeseňák M. Advances in Respiratory Therapy Research. New York: Nova Science Publishers, Inc., 2015: 157–176.

24. Delehaye E, Dore MP, Bozzo C, et al. Correlation between nasal mucociliary clearance time and gastroesophageal reflux disease: our experience on 50 patients. Auris Nasus Larynx 2009; 36 (2): 157–161.

25. Varechová S, Mikler J, Murgaš D, et al. Cough reflex sensitivity in children with suspected and confirmed gastroesophageal reflux disease. J Physiol Pharmacol 2007; 58 (Suppl 5): 717–727.

26. Barbato A, Frischer T, Kuehni CE, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009; 34 (6): 1264–1276.

27. Walker WT, Jackson CL, Lackie PM, et al. Nitric oxide in primary ciliary dyskinesia. Eur Respir J 2012; 40 (4): 1024–1032.

28. Bánovčin P, Jeseňák M, Michnová Z, et al. Factors attributable to the level of exhaled nitric oxide in asthmatic children. Eur J Med Res 2009; 14 (Auppl 4): 9–13.

29. Jeseňák M, Bánovčin P. Atopy patch test in the diagnosis of food allergy in children with atopic dermatitis. Acta Medica (Hradec Králové) 2006; 49 (4): 199–201.

30. Koniar D, Hargaš L, Štofan S. Segmentation of motion regions for biomechanical systems. Procedia Engineering 2012; 48: 304–311.

31. Kapellerová A. Primárna dyskinéza riasiniek – súčasnosť a perspektívy. Čes-slov Pediat 2002; (11): 611–614.

32. Djakow J, Svobodová T, Uhlík J, et al. Primární ciliární dyskineze část 1. – Patogeneze a klinický obraz. Alergie 2009; (1): 45–50.

33. Stephenson AL, Tom M, Berthiaume Y, et al. A contemporary survival analysis of individuals with cystic fibrosis: a cohort study. Eur Respir J 2015; 45 (3): 670–679.

34. Strapková A, Nosáľová G, Bánovčin P, et al. Zmeny reaktivity hladkého svalu dýchacích ciest po expozícii toluénu. Stud Pneumol Phtiseol 1995; 55 (4): 263–271.

35. Vávrová V, Zemková D, Skalická V, et al. Problémy v diagnostice cystické fibrózy – potřeba novorozeneckého screeningu: Přehledový článek o aktuálních problémech. Čes-slov Pediat 2006; 61 (12): 703–709.

36. Dřevínek P, Fila L. Role moderní mikrobiologické diagnostiky v péči o pacienty s cystickou fibrózou. Čes-slov Pediat 2008; 63 (2): 83–89.

37. Ratjen F, Döring G. Cystic fibrosis. Lancet 2003; 361 (9358): 681–689.

38. Djakow J, Svobodová T, Uhlík J, et al. Primární ciliární dyskineze část 2. – Diagnostika a léčba. Alergie 2009; (2): 38–44.

39. Smolíková L. Hygiena horních cest dýchacích – součást léčebné rehabilitace. Pediatr praxi 2002; (6): 262–267.

40. Smolíková L, Máček M. Respirační fyzioterapie a plicní rehabilitace. Brno: Národní centrum ošetřovatelství a nelékařských zdravotnických oborů, 2010.

41. Heroutová M, Fábry J. Fyzioterapia pri respiračných ochoreniach u detí. Pediatria (Bratisl) 2009; 4 (1): 47–52.

42. Ďurdíková V, Ďurdík P. Dychová rehabilitácia v liečbe a prevencii RIDC. In: Jeseňák M, Rennerová Z, Bánovčin P. Recidivujúce infekcie dýchacích ciest a imunomodulácia u detí. Praha: Mladá fronta, 2012: 419–426.

43. Svobodová T, Djakow J, Zemková D, et al. Impaired growth during child-hood in patients with primary ciliary dyskinesia. Int J Endocrinol 2013; 2013: 731423.

44. Jošková M, Fraňová S, Nosáľová G, et al. A beneficial influence of Provinol on the reduction of allergen induced hyperreactivity in guinea pigs. Bratisl Med J 2009; 110 (8): 454–458.