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Hidden cystic fibrosis in patient suffering from sarcoidosis


Authors: M. Doubková;  I. Binková;  J. Skřičková
Authors‘ workplace: Klinika nemocí plicních a tuberkulózy Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednostka prof. MUDr. Jana Skřičková, CSc.
Published in: Vnitř Lék 2012; 58(4): 329-334
Category: Case Reports

Overview

We describe a case of an adult patient, whom sarcoidosis was diagnosed at first and cystic fibrosis was also discovered 2 years later on. Cystic fibrosis and sarcoidosis are uncommon diseases that only rarely occur together. On the other hand, the coincidence of sarcoidosis and cystic fibrosis is possible, and, moreover, one of the diseases can remain undiagnosed long time. Relationship between sarcoidosis and cystic fibrosis seems not to be probable, in accordance with recent medical reports, and the coincidence of both conditions appears as sporadic.

Key words:
sarcoidosis – cystic fibrosis – CFTR gene – diagnosis


Sources

1. Statement on sarcoidosis. Joint Statement of the American Thoracic Society (ATS), the European Respiratory Society (ERS) and the World Association of Sarcoidosis and Other Granulomatous Disorders (WASOG) adopted by the ATS Board of Directors and by the ERS Executive Committee, February 1999. Am J Respir Crit Care Med 1999; 160: 736–755.

2. ATS/ERS/WASOG statement on sarcoidosis. American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and other Granulomatous Disorders. Sarcoidosis Vasc Diffuse Lung Dis 1999; 16: 149–173.

3. Hutchinson J. Anomolous disease of skin the fingers: case of livid papillary psoriasis. In: Illustration of clinical surgery.London: J and A Churchill 1878.

4. Kolek V et al. Sarkoidóza – známé a neznámé. Praha: Grada Publishing 1998.

5. Baughman H et al. Sarcoidosis. New York: Inform a Healthcare USA 2010.

6. Kolek V, Hutyrová B, Lošťáková V. MORSA – multicentrická moravská studie epidemiologických trendů sarkoidózy. Studia pneumologica et phtiseologica cechoslovaca 2005; 65: 17–20.

7. Bradley B, Branley HM, Egan JJ et al. British Thoracic Society Interstitial Lung Disease Guideline Group, British Thoracic Society Standards of Care Committee; Thoracic Society of Australia; New ­Zealand Thoracic Society; Irish Thoracic Society. Interstitial lung disease guideline: the British Thoracic Society in collaboration with the Thoracic Society of Australia and New Zealand and the Irish Thoracic Society. Thorax 2008; 63 (Suppl 5): v1–v58.

8. Vávrová V et al. Cystická fibróza. 1. vyd. Praha: Grada Publishing 2006.

9. Hodson MF, Geddes DM (eds). Cystic Fibrosis. 2nd ed. London: ARNOLD 2000.

10. Kerem B, Rommens JM, Buchanan JA et al. Identification of the cystic fibrosis gene. Genetic analysis. Science 1989; 245: 1073–1080.

11. Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066–1073.

12. Rommens JM, Ianuzzi MC, Kerem BS et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245: 1059–1065.

13. Farell PM, Rosenstein BJ, White TB et al. Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consensus report. J Pediatr 2008; 153: S4–S14.

14. Davies JC, Alton EW, Bush A. Cystic fibrosis. BMJ 2007; 335: 1255–1259.

15. Fila L, Sedlák V, Binková I et al. Dvacet let péče o dospělé nemocné s cystickou fibrózou v České republice. Vnitř Lék 2009; 55: 542–548.

16. Castellani C, Cuppens H, Macek M Jr et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008; 7: 179–196.

17. Castellani C, Southern KW, Brownlee K et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009; 8: 153–173.

18. Ratjen F, Döring G. Cystic fibrosis. Lancet 2003; 361: 681–689.

19. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis. A concensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998; 132: 589–595.

20. Burton CM, Pressler T, Milman N. Pulmonary sarcoidosis in a child with cystic fibrosis. Pediatr Pulmonol 2005; 39: 473–477.

21. Rettinger S, Trulock E, Mackay B et al. Case report: sarcoidosis in an adult with cystic fibrosis. Thorax 1989; 44: 829–830.

22. Cooper TJ, Day AJ, Keller PH et al. Sarcoidosis in two patient with cystic fibrosis: a for­tuitous association? Thorax 1987; 42: 818–820.

23. Soden M, Tempany E, Bresnihan B. Case report: sarcoid arhropaty in cystic fibrosis. Br J Rheumatol 1989; 28: 341–343.

24. Dobbin CJ, Moriarty C, Bye PT. Granulomatous diseases in a patient with cystic fibrosis. J Cyst Fibros 2003; 2: 35–37.

25. Bombieri C, Luisetti M, Belpinati F et al. Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study. Eur J Hum Genet 2000; 8: 717–720.

26. Bombieri C, Belpatini F, Pignati P et al. Comment on CFTR gene station in sarcodosis. Eur J Hum Genet 2003; 11: 553–554.

27. Hughes D, Dörk T, Stuhrmann M et al. Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patient from Nothern Ireland. J Med Genet 2001; 38: 136–139.

28. Iannuzzi MC, Rybicki BA. Genetics of sarkoidosis: candidate genes and genome scans. Proc Am Thorac Soc 2007; 4: 108–116.

29. Luisetti M, Pignatti PF. Genetics of idiopathic diseminated bronchiektasis. Semin Respir Crit Care Med 2003; 24: 179–184.

30. Makrythanasis P, Tzetis M, Rapti A et al. Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alfa-10, interferon alfa-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in greek patients. Genet Test Mol Biomarkers 2010; 14: 577–584.

31. Pier GB, Grout M, Zaidi TS. Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aerugionosa from the lung. Proc Natl Acad Sci USA 1997; 94: 12088–12093.

32. Schürmann M, Albrecht M, Schwinger E. CFTR gene mutations in sarcoidosis. Eur J Hum Genet 2002; 10: 729–732.

33. Spector WG, Heesom N. The production of granulomata by antigen-antibody complexes. J Pathol 1969; 98: 31–39.

34. Don CJ, Dales RE, Desmarais RL et al. The radiographic prevalence of hilar and mediastinal adenopathy in adult cystic fibrosis. Can Accos Radiol J 1997; 48: 265–269.

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