Also referred to as mucoviscidosis and mucovoidosis, cystic fibrosis is a genetic disorder that affects mainly the secretory glands. Common symptoms of this difficult medical condition include shortness of breath, frequent chest infections as well as salty tasting skin. Likewise, patients of this disease can experience excess mucus production, poor weight gain and coughing. In addition to these important details, it is also good to know something about its history including who discovered cystic fibrosis.
The Discovery of Cystic Fibrosis
Who discovered cystic fibrosis? Bohemian pathologist Carl von Rokitansky made the first description of the disease, which he made as part of his report on a fetal death caused by meconium peritonitis. Likewise, cystic fibrosis was also associated with meconium ileus, which was first described by Austrian physician Karl Landsteiner. In 1936, a Swiss pediatrician named Guido Fanconi described the clear association between bronchiectasis, cystic fibrosis of the pancreas and celiac disease.
Additional Facts and Other Important Information
Cystic fibrosis is truly a serious medical condition. Patients usually experience inflammation, mainly because of mucosa buildup that clogs the airways. The lungs are often injured because of the infection and inflammation. Likewise, they undergo certain structural changes. During the early stages of the disease, patients experience different kinds of symptoms including decreased capacity to exercise, copious phlegm production and incessant coughing.
Additionally, patients also experience pulmonary hypertension, bronchiectasis and hemoptysis. It is also possible for them to experience respiratory failure, hypoxia and even heart failure. The main cause of this disease is gene cystic fibrosis transmembrane conductance regulator mutation. Generally, it is classified as an autosomal recessive disease.
Diagnosis is very important in managing this disease. Some of the methods used for this illness are genetic testing, sweat testing and newborn screening. The primary purpose of newborn screening is to measure the increased immunoreactive trypsinogen blood concentration. Other diagnostic procedures that are helpful in monitoring the disease include pulmonary function tests, examination of the sputum and CAT scans. Meanwhile, blood tests can help identify vitamin deficiencies and liver abnormalities.
The purpose of cystic fibrosis treatment is to improve the quality of life of patients. At the same time, it is also aimed at maximizing the organ function of patients. Gene therapy and transplantation are amongst the most popular methods used in managing this disease. Patients can also take various types of antibiotics, namely oral, inhaled and intravenous. Aerosolized medications are also available like hypertonic saline and dornase alfa, both of which are designed to loosen secretions.