Literature DB >> 20865572

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

Fevzi Ataseven1, Samet Ozer, Resul Yılmaz, Atilla Senaylı.   

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.

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Year:  2010        PMID: 20865572

Source DB:  PubMed          Journal:  Tuberk Toraks        ISSN: 0494-1373


  3 in total

1.  Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation.

Authors:  Daniele Rapino; Inna Sabirzhanova; Miquéias Lopes-Pacheco; Rahul Grover; William B Guggino; Liudmila Cebotaru
Journal:  PLoS One       Date:  2015-03-23       Impact factor: 3.240

2.  Clinical presentation of air leak in an infant with undiagnosed cystic fibrosis: a case report.

Authors:  Mohammed M Al-Balawi; Khalid Al-Mobaireek; Wadha Alotaibi; Abdullah Al-Shamrani; Khalid S Ahmad; Suhail Al-Saleh
Journal:  J Med Case Rep       Date:  2015-07-11

3.  Primary spontaneous bilateral pneumothorax in a neonate.

Authors:  Kamaldeep Arora; Shasanka Shekhar Panda; Rashmi Ranjan Das; Pankaj Kumar Mohanty; Meely Panda
Journal:  APSP J Case Rep       Date:  2014-09-01
  3 in total

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