42 Dramatic clinical stabilisation following introduction of ivacaftor in an adult patient with cystic fibrosis (CF) and R117H/5T mutation
نویسندگان
چکیده
منابع مشابه
Multidimensional Clinical Phenotyping of an Adult Cystic Fibrosis Patient Population
BACKGROUND Cystic Fibrosis (CF) is a multi-systemic disease resulting from mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene and has major manifestations in the sino-pulmonary, and gastro-intestinal tracts. Clinical phenotypes were generated using 26 common clinical variables to generate classes that overlapped quantiles of lung function and were based on multiple aspects of ...
متن کاملIvacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation.
Cystic fibrosis (CF) is an autosomal recessive lethal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes for CFTR, an epithelial cell-surface expressed protein responsible for the transport of chloride (Cl(-)). Gating mutations associated with defective conductance can be modulated by CFTR potentiators. Ivacaftor is a CFTR potentiator...
متن کاملComputed tomography correlates with improvement with ivacaftor in cystic fibrosis patients with G551D mutation.
BACKGROUND Ivacaftor corrects the cystic fibrosis transmembrane conductance regulator (CFTR) gating defect associated with G551D mutation and is quickly becoming an important treatment in patients with cystic fibrosis (CF) due to this genetic mutation. METHODS A single-center study was performed in CF patients receiving ivacaftor to evaluate the usefulness of high resolution computed tomograp...
متن کاملMediastinal tuberculosis in an adult patient with cystic fibrosis.
Tuberculosis (TB) is rarely observed in cystic fibrosis (CF) patients. We report the first case of mediastinal TB, associated with leg pain and skin rash, in an adult patient with CF, and discuss factors suggestive of TB in the course of CF.
متن کاملGrowth in Prepubertal Children With Cystic Fibrosis Treated With Ivacaftor.
BACKGROUND AND OBJECTIVES Cystic fibrosis (CF) is known for its impact on the lung and pancreas of individuals; however, impaired growth is also a common complication. We hypothesized that targeting the biological defect in the CF transmembrane conductance regulator (CFTR) protein may affect growth outcomes. METHODS In this post hoc analysis, we assessed linear growth and weight in 83 childre...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2016
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(16)30282-x