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Erişkin kistik fibrozis: Olgu sunumu
2018
Journal:  
Turkish Journal of Clinics and Laboratory
Author:  
Abstract:

Kistik fibrozis (KF), kistik fibrozis transmembran regulator proteini (KFTR) genindeki mutasyonlar sonucu oluşan otozomal resesif  ciddi bir hastalıktır. Klasik KF sık solunum yolu enfeksiyonları ve pankreas yetmezliği ile karakterize progresif bir bozukluktur ve çocukluk çağında tanı alır. Hastaların %2’siinfertilite, akut veya kronik pankreatit, sinüzit, bronşektazi ve nazal polip bulgularını içeren “ non klasik” ya da “atipik ” fenotipe sahiptir. Atipik KF semptomları tipik KF ile karşılaştırıldığında genellikle daha hafiftir ve erişkin yaşa kadar bulgu vermeyebilir. Otuz üç yaşında bronşektazi, infertilite ve sinüzit tanısı bulunan erkek hastayı atipik KF’in farklı organ sistemlerini değişen derecelerde etkileyen ve çok çeşitli tablolarla ortaya çıkan bir bozukluk olduğunu hatırlatmak ve tüm uzman hekimlerin pratiğinde akılda bulundurması gerektiğini vurgulamak amacıyla sunduk. 

Keywords:

Adult Cystic Fibrosis: Case Presentation
2018
Author:  
Abstract:

Cystic fibrosis (KF) is an autosomal resessive serious disease resulting from mutations in the transmembran regulator protein (KFTR) gene. Classic KF is a progressive disorder characterized by frequent respiratory infections and pancreas failure and is diagnosed in childhood. 2% of patients have a "non-classic" or "atypic" phenotype, which contains symptoms of siinfertility, acute or chronic pancreatitis, sinusitis, bronchectasis and nasal polyps. Atypical KF symptoms are usually lighter compared to typical KF and may not be found until adult age. We presented the male patient with a thirty-three-year-old diagnosis of bronchectasis, infertility and sinusitis in order to remind that the atypical KF is a disorder that affects the different organ systems in varied degrees and occurs with a wide variety of tables, and to emphasize that all specialists should keep it in mind in practice.

Keywords:

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Turkish Journal of Clinics and Laboratory

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 620
Cite : 334
2023 Impact : 0.019
Turkish Journal of Clinics and Laboratory