Genetic Disorders: The Causes Of Cystic Fibrosis

In as much as medical research has made substantial progress in recognizable disease today, there remains a plethora of diseases needed advanced research. Numerous diseases that were once an imminent death sentence have made outstanding medical advances. Cystic fibrosis (CF) is a genetic disorder that decreases the effectiveness of the lungs due to a mucous buildup. In the late twentieth century patients with CF could only to expect to live a few years but since 2006, life expectancy has risen to 36 years of age.1,2 Cystic fibrosis is a genetic disorder that causes a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation is a deletion of phenylalanine from position 508 which can also be referred
Other effects include thick, viscous stool, chronic pulmonary disease, progressive pancreatic insufficiency as well as biliary cirrhosis of the liver.1 A decrease in pulmonary function and nutritional status (Body Mass Index (BMI)) is a precursor to cystic fibrosis related diabetes (CFRD).1,2 These are all concerns to be cognizant of in a CF patient. Screening for CF has become a more routine process since 2010. All newborns are tested for CF which includes a test for a panreactic chemical, immunoreactive typsinogen (IRT).2 A higher level might be an indicator for CF but further tests including a DNA test would confirm that diagnosis. A quantitative pilocarpine iontophoresis sweat test (QPIT) collects sweat from the forearm to test for chloride concentrations. Normal chloride values are ≤39 mmol/L, intermediate levels are 40 to 59 mmol/L, and abnormal levels are ≥60 mmol/L to diagnose for
Within the portion of participants who were randomized to receive the active drug, was a parallel group study. One group included ambulatory electrocardiography (TRAFFIC only) and a second group included adolescent pharmacokinetic assessments (TRANSPORT only). Other than these exceptions the study and data analysis for all aspects of the study were identical. There were 559 participants in the TRAFFIC study and 563 participants in the TRANSPORT study while collectively there were 348 patients in the LUM (600mg/day)-IVA group, 344 patients in the LUM (400 mg every 12 hrs)-IVA group, and 362 patients in the placebo group who completed the study. This randomized study was stratified evenly according to several factors including age (< 0.001). Until the end of the study the rate of pulmonary exacerbations were continuously lower than the placebo group. Concomitantly, a reduced number of pulmonary exacerbations through the lumacaftor-ivacaftor groups also decreased the number of events leading to hospitalizations and intravenous antibiotic treatment. The decrease in hospitalizations was by 39% by LUM (600mg/day)-IVA (p-value=0.003) and 61% by LUM (400 mg every 12 hrs)-IVA (p-value < 0.001) pooling the TRAFFIC and TRANSPORT studies compared to the placebo. These are both significant values within the