Clinical and laboratory findings of patients with cystic fibrosis: a single center experience from Türkiye

Yıl 2025, Cilt: 19 Sayı: 3, 92 - 98, 14.05.2025

Aslıhan Köse Çetinkaya , Deniz Doğru , Güzin Cinel , Ebru Yalçın , Uğur Özçelik , Nural Kiper , Hasan Ozen , Ayfer Alikaşifoğlu , Burçin Şener , Didem Dayangaç-erden

https://doi.org/10.12956/tchd.1562280

Öz

Objective: The objective of this study was to evaluate the clinical characteristics of patients with cystic fibrosis (CF) and to determine whether there is a relationship between nutritional status and pulmonary functions. Additionally, the study aimed to investigate the relationship between the CFTR genotype and the occurrence of cystic fibrosis-related diabetes (CFRD), as well as the impact of CFTR mutations on the severity of CF pulmonary disease.

Material and Methods: The data of 300 CF patients were retrospectively analyzed. Clinical and laboratory characteristics were obtained from unit database. The patients’ growth indices and nutritional status were assessed based on age groups.

Results: Among the 300 patients, 69.5% were diagnosed under age one year old. The earliest diagnosed patient was 2 days old, and the latest diagnosed patient was 31 years old. The most common presenting complaints were recurrent lung infections and gastrointestinal symptoms. Genotyping was performed in 241 patients (80.3%), and 16.6% of these were found to be homozygous for F508del. The allelic frequency of F508del was found to be 41.4%. Eighty-three patients (29.7%) were colonized with Pseudomonas aeruginosa, andthey were found to have more severe lung disease compared to non-colonized patients (p=0.004). We observed that 30% of the patients with CFRD and 12.7% of the non-diabetic patients had severely impaired pulmonary function (p=0.004). The patients who had F508del mutation in at least one allel were found to have a higher risk of developing diabetes compared to those who did not have (p=0.049).

Conclusion: Pseudomonas aeruginosa colonisation and development of CFRD are associated with impairment in pulmonary functions in CF patients.

Anahtar Kelimeler

Cystic fibrosis, Mutation, Pulmonary function

Kaynakça

• Shteinberg M, Haq IJ, Polineni D, Davies JC. Cystic fibrosis. Lancet 2021;397:2195-211.
• Hangül M, Pekcan S, Köse M, Acıcan D, Şahlar TE, Erdoğan M, et al. The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016. Balkan Med J 2019;36:179-83.
• ECFS Patient Registry. https://www.ecfs.eu/ecfspr/. Accessed August 14, 2019.
• Schmidt H, Sharma G. Sweat testing. In: StatPearls. Treasure Island, FL: StatPearls Publishing, 2020.
• Singh VK, Schwarzenberg SJ. Pancreatic insufficiency in Cystic Fibrosis. J Cyst Fibros 2017;16 Suppl 2:S70-S78
• Wang M. Iron Deficiency and Other Types of Anemia in Infants and Children. Am Fam Physician 2016;93:270-8.
• Zhu X, Wang K, Zhou Q, Xu J. Establishment of age- and sex-specific reference intervals for serum liver function tests in pediatric population aged 1-<18 years: A prospective study. J Clin Lab Anal 2021;35:e23708.
• Centers for Disease Control and Prevention. A SAS program for the 2000 CDC growth charts (ages 0 to <20 years) http://www.cdc.gov/nccdphp/dnpao/growthcharts/resources/sas.htm/
• Miller MR, Hankinson J, Brusasco V, Burgos F, Casaburi R, Coates A, et al. ATS/ERS Task Force. Standardisation of spirometry. Eur Respir J 2005;26:319-38.
• Mésinèle J, Ruffin M, Kemgang A, Guillot L, Boëlle PY, Corvol H. Risk factors for Pseudomonas aeruginosa airway infection and lung function decline in children with cystic fibrosis. J Cyst Fibros 2022;21:45-51.
• Abdul Aziz D, Siddiqui F, Abbasi Q, Iftikhar H, Shahid S, Mir F. Characteristics of electrolyte imbalance and pseudo-bartter syndrome in hospitalized cystic fibrosis children and adolescents. J Cyst Fibros 2022;21:514-8.
• Francis NZ, Southern KW. Antifungal therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis. Cochrane Database Syst Rev 2022;9:CD002204.
• Moran A, Brunzell C, Cohen RC, Katz M, Marshall BC, Onady G, et al. CFRD Guidelines Committee. Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care 2010;33:2697-708.
• Cystic Fibrosis Foundation Patient Registry 2023 Annual Data Report. https://www.cff.org/medical-professionals/patient-registry
• Dogru D, Çakır E, Şişmanlar T, Çobanoğlu N, Pekcan S, Cinel G, et al. Cystic fibrosis in Turkey: First data from the national registry. Pediatr Pulmonol 2020;55:541-8.
• Cystic Fibrosis Foundation Patient Registry 2018 Annual Data Report. https://www.cff.org/sites/default/files/2021-10/2018-Annual-Report.pdf
• Zolin A, Orenti A,Naehrlic L, van Rens J, Fox A, Jung A, et al. ECFS Patient Registry Annual Data Report data 2017. Denmark
• Kilinc AA, Beser OF, Ugur EP, Cokugras FC, Cokugras H. The effects of nutritional status and intervention on pulmonary functions in pediatric cystic fibrosis patients. Pediatr Int 2021;63:316-22.
• Ashkenazi M, Nathan N, Sarouk I, Aluma BEB, Dagan A, Bezalel Y, et al. Nutritional status in childhood as a prognostic factor in patients with cystic fibrosis. Hai 2019;197:371–6.
• Çobanoğlu N, Özçelik U, Çakır E, Şişmanlar Eyüboğlu T, Pekcan S, Cinel G, et al. Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey. Pediatr Pulmonol 2020;55:2302-6.
• Er B, Çelebioğlu E, Yalçin E, Doğru D, Erden Aki Ö, Uzun Ö, et al.Factors associated with severe lung disease in an adult population with cystic fibrosis: a single-center experience. Turk J Med Sci 2020;50:945-52.
• Iafusco F, Maione G, Rosanio FM, Mozzillo E, Franzese A, Tinto N. Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors. Diagnostics (Basel) 2021;11:572.
• Lewis C, Blackman SM, Nelson A, Oberdorfer E, Wells D, Dunitz J, et al. Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex. Am J Respir Crit Care Med 2015;191:194-200.
• Kayani K, Mohammed R, Mohiaddin H. Cystic Fibrosis-Related Diabetes. Front Endocrinol (Lausanne) 2018;9:20.
• Castellani C, Duff AJA, Bell SC, Heijerman HGM, Munck A, Ratjen F, et al. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros 2018;17:153-78.