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Journals / Tüberküloz ve Toraks / 2010 / Cilt: 58 - Sayı: 2

Kistik fibrozis (CFTR) geninde N1303K mutasyonu olan yenidoğanda bilateral spontan pnömotoraks

Bilateral spontaneous pneumothorax in a newborn with N1303K mutation of cystic fibrosis (CFTR) gene

Atilla ŞENAYLI
Resul YILMAZ
Fevzi ATASEVEN
Samet ÖZER
Pages
181–183
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We report a newborn presenting with bilateral pneumothorax whose diagnosis was cystic fibrosis with N1303K mutation on CFTR gene.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cystic fibrosis is the most frequent and lethal inherited disease, affecting populations of European and Caucasian origin.
📊
Key Findings & Data:Pneumothorax is life threatening pulmonary complication of cystic fibrosis.
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Conclusion & Impact:We report a newborn presenting with bilateral pneumothorax whose diagnosis was cystic fibrosis with N1303K mutation on CFTR gene.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Cystic fibrosis is the most frequent and lethal inherited disease, affecting populations of European and Caucasian origin. Pneumothorax is life threatening pulmonary complication of cystic fibrosis. Bilateral pneumothorax is rarely seen and is a predictor of poor prognosis. We report a newborn presenting with bilateral pneumothorax whose diagnosis was cystic fibrosis with N1303K mutation on CFTR gene.

Özet

Kistik fibrozis, Avrupa ve Kafkas kökenli toplumları etkileyen, en sık görülen ölümcül kalıtımsal hastalıktır. Pnömotoraks, kistik fibrozisin hayatı tehdit eden pulmoner komplikasyonudur. Bilateral pnömotoraks nadir görülür ve kötü prognostik belirteçtir. CFTR geninde N1303K mutasyonu taşıyan kistik fibrozis tanısı olan, bilateral pnömotoraks ile başvuran yenidoğanı bildirdik.

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Cite This Article

ŞENAYLI, A., YILMAZ, R., ATASEVEN, F., ÖZER, S. (2022). Kistik fibrozis (CFTR) geninde N1303K mutasyonu olan yenidoğanda bilateral spontan pnömotoraks. Tüberküloz ve Toraks, Cilt: 58 - Sayı: 2, 181–183. https://ajindex.com/articles/618808

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