Cystic fibrosis is a progressive, chronic disorder that is usually genetically transmitted disease involving the mucous glands of the body. The disease affects the respiratory or digestive tract of the children while the reproductive system and sweat glands are usually involved. The average lifespan of people suffering from Cystic fibrosis is around 30-35 years. Cystic fibrosis is quite common, according to the research by Cystic fibrosis foundation, it is seen that 20,000 Europeans, 3000 Canadian and 30,000 Americans. It commonly occurs within whites who belong to Northern Europe. In the United States, it is seen that 2500 babies are born with Cystic fibrosis disease every year.
The signs and symptoms of this fatal condition vary from person to person but it mainly affects the mucous or sweat glands. Cystic fibrosis patients lose excessive salt in their sweat which results in a mineral imbalance within the blood leading to abnormal heart rhythms. This leads the patient to an increased risk of shock development. The mucus production in such patients becomes thick leading to accumulation within the lungs and intestines. This further results in improper growth, malnutrition, breathing difficulties, respiratory infections and ultimately lung damage. The patients with cystic fibrosis usually die due to lung disease.
Cystic fibrosis is the leading cause of other medical conditions as well like sinusitis, the formation of nasal polyps, clubbing in fingers and toes, pneumothorax, cor pulmonale, hemoptysis, abdominal pain and discomfort, rectal prolapse, diabetes, liver disease, gallstone formation, and others.
So, how one can suspect their children suffering from Cystic fibrosis? You should immediately consult the doctor if the baby is continuously suffering from greasy stools, persistent diarrhea, wheezing, pneumonia, chronic cough, thick mucus, and poor growth.
The diagnosis of CF is mostly done with the sweat test where the concentration of salt is measured in the sweat. The sweat test is usually not effective in newborns so a test known as IRT or Immunoreactive trypsinogen test may be performed. Other tests for the positive diagnosis of CF include lung function tests, chest X-rays, sputum cultures, and stool examination test. So how does this disease occur in babies? For the CF to appear, there needs the presence of multiple mutant genes. Each parent has a mutant and a normal gene. The single gene is sufficient for the proper functioning of the glands. However, babies are 25% at risk of inheriting the defective genes and suffer from CF while a 25% chance of getting the normal genes and 50% chance of being the unaffected carrier similar to the parents.
As Cystic fibrosis is the genetic disease, it can be cured at an early age through gene therapy. Ideally, gene therapy aids in replacing or repairing the affected gene. Another therapeutic option includes the addition of protein products to the CF patients which is missing in the patient. during the present time, no such treatments are available and only drugs are used for relieving the symptoms associated with CF. CF used to be fatal during childhood in the past 20 years but now with the development of different therapeutic measures like a combination of antibiotic therapy has helped the affected patients to survive for around 30-35 years with improved life quality. Sometime, in the future, scientists might be able to effectively treat CF with gene therapy as they have developed the gene therapy effectively in the lab but the most important question that they are looking for is whether it would help treat lung diseases. In today’s world, it is impossible to prevent CF but it might be possible in the upcoming days. Other than that there are prenatal tests that help in identifying the CF gene mutations in the upcoming baby but all the mutations are not identified.
Until Next Time,
Team Doctor ASKY!