Meltem YILMAZ, Levent MUTLU

Cystic fibrosis diagnosed in a nineteen-year-old case

ISSN: 2149-3189
Yayın Aralığı: 6
Başlangıç: 2015
Yayıncı: Prusa Medikal Yayıncılık Limited Şirketi

Cystic fibrosis is the most common autosomal recessive hereditary disease in white populations. It is characterized by the formation of abnormal secretions in the exocrine glands located in the sweat and salivary glands, tracheobronchial tree, large intestine, and pancreas. The severity of the clinic depends on the type of "cystic fibrosis transmembrane regulatory protein" gene mutation. Although most cases are diagnosed in infancy or childhood, some patients are also diagnosed during adolescence and adulthood. We report a case of a 19-year-old patient who was followed up with a diagnosis of asthma and bronchiectasis since childhood and diagnosed with cystic fibrosis.

Keywords:

Adolescence bronchiectasis, cystic fibrosis,

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1. Katkin JP. Cystic fibrosis: clinical manifestations and diagnosis. UptoDate, March 2023. Online. https://www.uptodate.com/contents/cystic-fibrosis-clinical-manifestations-and-diagnosis
2. Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med 2003;9:498-503.
3. Burgel PR, Fajac I. Cystic fibrosis: current aspects and perspectives. Presse Med 2017;46(6 Pt 2):e85-6.
4. Yıldırım E, İntepe YS, Çiftçi B. [Adult cystic fibrosis: A case report]. Turk J Clin Lab 2018;9:353-6. [Article in Turkish]
5. Üstü Y, Uğurlu M. [National early diagnosis and screening program: cystic fibrosis]. Ankara Med J 2016;16:239-41. [Article in Turkish]
6. Turcios NL. Cystic fibrosis lung disease: an overview. Respir Care 2020;65:233-51.
7. Becq F, Mirval S, Carrez T, Lévêque M, Billet A, Coraux C, et al. The rescue of F508del-CFTR by elexacaftor/tezacaftor/ivacaftor (Trikafta) in human airway epithelial cells is underestimated due to the presence of ivacaftor. Eur Respir J 2022;59:2100671.