Vnitr Lek 2016, 62(5):360-364

Diagnostics of cystic fibrosis in adults

Libor Fila^1,*, Alžběta Grandcourtová¹, Lucie Valentová Bartáková¹, Zuzana Antušová², Eva Pokojová³, Vladimír Herout³, Petr Jakubec⁴, Radka Bittenglová⁵, Miloslav Marel¹

¹ Pneumologická klinika 2. LF UK a FN v Motole, Praha

² Plicní klinika LF UK a FN Hradec Králové

³ Klinika nemocí plicních a tuberkulózy LF a FN Brno, pracoviště Bohunice

⁴ Klinika plicních nemocí a tuberkulózy LF UP a FN Olomouc

⁵ Klinika pneumologie a ftizeologie LF UK a FN Plzeň

Introduction:
There is an increasing number of cystic fibrosis (CF) patients with the diagnosis established in adulthood worldwide.

Aim:
To give an overview of our experience with the diagnostics of CF in adulthood in the Czech Republic.

Methods:
CF patients with the diagnosis determined at the age ≥ 18 years during 2000-2014 period were selected from the Czech Registry of CF (www.cfregistr.cz). Demographic and clinical data were reported from medi-cal records at the time of diagnosis and as of 31^st December 2014. Only those with two CF causing mutation or with one CF causing mutation together with sweat chloride concentration > 60 mmol/l were included in the study. The clinical presentation was compared with a control group consisting of homozygous F508del patients with the diagnosis established in childhood.

Results:
23 patients (16 men and 7 women) with the diagnosis determined at a mean age of 32.9 ± 8.5 years were included in the study. Presenting symptoms included bronchiectasis and/or haemoptysis in 12 cases, obstructive azoospermia in 7 cases and recurrent pancreatitis in 4 cases. When compared with the control group, the patients had higher age (38.6 ± 8.3 vs. 28.3 ± 4.7 years; p < 0.001), a lower concentration of sweat chloride (62 ± 23 vs. 90 ± 12 mmol/l; p < 0.001), less frequent airway infections with Pseudomonas aeruginosa and/or Burkholderia cepacia complex (4 vs. 12; p = 0.029), bronchiectasis (14 vs. 23; p = 0.001), exocrine pancreatic insufficiency (1 vs. 23; p < 0.001) and therapy with insulin (1 vs. 9; p = 0.01); on the contrary, pancreatitis was more frequent (6 vs. 0; p = 0.022).

Conclusion:
Diagnosis of CF in adults should be considered in those with corresponding symptoms in respiratory, digestive and reproductive tract. Clinical presentation differs from classical CF in many parameters.

Keywords: adults; cystic fibrosis; diagnostics

Received: December 2, 2015; Accepted: March 21, 2016; Published: May 1, 2016  Show citation