Congenital lobar emphysema in monozygotic twins.

Congenital lobar emphysema (CLE) is caused by airway defects resulting in air trapping and hyperinflation of the affected lobe. Case reports of families affected with CLE imply a genetic etiology. However, the genetic contributions have not been well-described. We present a case of CLE in a monozygotic twin brother with respiratory distress diagnosed with right upper lobe (RUL) CLE and treated with a lobectomy. His asymptomatic twin brother was screened prophylactically, found to have RUL CLE and subsequently underwent a lobectomy. Our report provides further evidence supporting the genetic predisposition and potential benefit of early screening for CLE in comparable scenarios.

Improved clinical and radiographic outcomes after treatment with ivacaftor in a young adult with cystic fibrosis with the P67L CFTR mutation.

The underlying cause of cystic fibrosis (CF) is the loss of epithelial chloride and bicarbonate transport due to mutations in the CF transmembrane conductance regulator (CFTR) gene encoding the CFTR protein. Ivacaftor is a gene-specific CFTR potentiator that augments in vivo chloride transport in CFTR mutations affecting channel gating. Originally approved for the G511D CFTR mutation, ivacaftor is now approved for eight additional alleles exhibiting gating defects and has also been tested in R117H, a CFTR mutation with residual function that exhibits abnormal gating. P67L is a class 4 conductance (nongating) mutation exhibiting residual CFTR function. We report marked clinical improvement, normalization of spirometry, and dramatic reduction in radiographic structural airway changes after > 1 year of treatment with ivacaftor in a young adult with the compound heterozygous genotype P67L/F508del CFTR. The case suggests that ivacaftor may have a potential benefit for patients with CF with nongating mutations.

Mycobacterium avium complex (MAC) presenting as the first infection in a child with cystic fibrosis.

Nontuberculous mycobacteria (NTM) have been increasingly recognized in recent years as contributors to clinically significant lung infection in cystic fibrosis (CF) patients. Reports of prevalence vary from 6 to 22% around the world. Prevalence estimates in childhood CF is challenging since sputum producers are rare, bronchoalveolar lavage is an invasive procedure and may not be feasible, and mounting evidence deeming throat cultures to be unsuccessful in detecting NTM. We report a case of an overall healthy 13 year old young adolescent female with CF, who presented with Mycobacterium avium complex (MAC) as her first documented lung infection, and while only presenting with minor cough proved to have severe purulent bronchial infection. Contrary to common paradigms, NTM can be the first infection in a non-previously infected airway, and, this first infection can be of a serious nature unlike the more subtle anticipated pattern. The causes of the high and probably increasing overall incidence of NTM and specifically in CF elude explanation and mandate further study. Continuing efforts should be invested into the study of all aspects of this ominous infection. Pediatr Pulmonol. 2015; 50:E5-E7. © 2014 Wiley Periodicals, Inc.