Prospective Analysis of Cystic Fibrosis Transmembrane Regulator Mutations in Adults With Bronchiectasis or Pulmonary Nontuberculous Mycobacterial Infection

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

“…aCKnOWLEDGMEntSwith single allele variants in another ABC transporter, that is, ABCA7 also called cystic fibrosis transmembrane regulator (CFTR). The expression of single alleles increases the risk for bronchiectasis (30,31) and rhinosinusitis (32), as well as extra pulmonary manifestations of cystic fibrosis like pancreatitis (33,34) or azoosermia (35). In the case of ABCA3-R288K, it remains to be elucidated whether the effects of the variants can be explained by haploinsufficiency alone or if the variant exerts a dominant-negative effect.…”

Disrupted posttranscriptional regulation of the cystic fibrosis transmembrane conductance regulator (CFTR) by a 5′UTR mutation is associated with a cftr-related disease

“…Of these, heterozygosity for the CFTR M470V allele has been implicated in the development of asthma, DB and COPD of unknown aetiology [Casals, et al, 2004;Tzetis, et al, 2001]. Also, heterozygosity for other CFTR mutations, such as ∆F508, R117H and R75Q, has been linked to the development of CBAVD and bronchiectasis [Wilschanski, et al, 2006;Ziedalski, et al, 2006]. We have shown that the c.-34C>T mutation disrupts normal post-transcriptional regulation of mRNA stability and translation, resulting in a dramatic loss of gene expression.…”

Cystic Fibrosis Late Diagnosis: A Case Report

“…Certain pulmonary signs, however, such as recurrent pneumonia, progressive obstruction possibly identified as asthma or chronic obstructive pulmonary disease, chronic sinusitis, or nasal polyposis can lead to suspicious CF [19,20]. Among GIT symptoms in atypical CF, it can be included chronic constipation or diarrhea and chronic or recurrent pancreatitis [21].…”