Ivacaftor as salvage therapy in a patient with cystic fibrosis genotype F508del/R117H/IVS8-5T
نویسندگان
چکیده
منابع مشابه
Ivacaftor and sinonasal pathology in a cystic fibrosis patient with genotype delta F508/S1215N
In patients with Cystic Fibrosis and a type III mutation, ivacaftor (Kalydeco(®), Vertex) can increase the opening time of the CFTR channel and improve chloride transport. Research showed significant improvement of lung function and increase in weight following ivacaftor use. However, ivacaftor showed to have adverse events on the sinonasal system as well, such as upper respiratory tract infect...
متن کاملIntragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral absence of the vas deferens in males. Individuals with classic CF usually have variants that prod...
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 کاملRare genotype del2,3/2184insA in a cystic fibrosis patient.
In this paper we present an interesting case of cystic fibrosis patient with rare genotype de12,3/2184insA and atypical clinical image including: mild symptoms in an early phase of disease, quick progress of lung disease, complicated with pneumothorax after Bordetella pertussis infection and very good response to systemic and inhaled steroid therapy.
متن کاملAppendicovesical fistula presenting as a bladder mass in a girl with cystic fibrosis: a case report
Background: Appendicovesical fistula in patients suffering from cystic fibrosis is a rare condition. Although this situation is so rare it should be considered in the differential diagnosis, dealing with a patient with cystic fibrosis and chronic abdominal pain with no response to primary management. To the best of our knowledge, this is the third case of appendicovesical fistula in a patient w...
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: 2015
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2015.01.010