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A Brief Overview of Cystic Fibrosis

Updated on April 24, 2017

Cystic Fibrosis Meaning

Cystic Fibrosis (CF) is an inherited genetic disorder. Person suffering from cystic fibrosis would have inherited two faulty cystic fibrosis genes, one cystic fibrosis gene from each parent.

This disease was first observed in the 1930s. It affects lungs and the digestive system of the patient and causes progressive disability and early death. Currently more than 30,000 people in the USA are affected by CF; around 1,000 new cases emerge every year.

More than 30,000 people in the US are affected by cystic fibrosis

Cystic Fibrosis is a Life Shortening Disease

CF is one of the main life shortening diseases. Patients suffering from cystic fibrosis die before they reach 30 years of age, mainly due to lung failure. It is observed that Caucasians and Ashkenazi Jews are more susceptible to this disease.

Lungs

Source

Cystic Fibrosis Causes

Cystic Fibrosis has got its name from two terms "cyst" (cyst formation in the pancreas) and "fibrosis" (scarring). It is caused due to variations in the CFTR gene. This gene regulates secretion of digestive juices, mucus and sweat in the human body.

Pancreas

Source

Diagnosis

Cystic Fibrosis can be diagnosed before childbirth by genetic testing. In children, it can be diagnosed by sweat test, blood test and x-ray.

People with cystic fibrosis will be underweight

Source

Symptoms

Mucus of the person suffering from cystic fibrosis becomes thick and sticky. Person suffering from cystic fibrosis will be underweight. Skin will be salty. The patient will suffer from cough and excessive phlegm secretion. Difficulty in breathing is another common symptom. Patient will also suffer from thickened secretions from the pancreas. Pancreas is responsible for secretion of digestive juices which helps in digestion. Person finally dies due to heart failure, liver failure or respiratory failure. Most of the patients suffering from cystic fibrosis will be infertile.

Treatment

As on date, there is no cure for this disease. Infections are treated with antibiotics. Transplantation along with gene therapy is recommended in some cases. Lot of research is going on. Research scientists are working on inhaled spray which contain normal copies of the CF gene. Experts are working really hard to increase the life expectancy of the patients suffering from this disease and there has been a significant improvement in this over a period of time.

Prevention

Patients should make sure that they have an active life style. They should get themselves treated for any kind of lung related ailment as soon as possible to avoid further complications. They should have nutritious food and a lot of healthy fluids.

Summary

  • Cystic Fibrosis is an inherited genetic disorder.
  • People suffering from cystic fibrosis usually die due to lung failure.
  • Cystic Fibrosis can be diagnosed before childbirth by genetic testing.
  • Person suffering from cystic fibrosis will be underweight.
  • Cystic fibrosis genetics is a subject of research for many scientists worldwide.
  • Cystic Fibrosis is caused due to variations in the CFTR gene.

Did you know about cystic fibrosis before reading this hub?

See results

5 Monogenetic Disorders

Sl No
Name
 
1
Cystic fibrosis
 
2
Sickle cell anemia
 
3
Marfan syndrome
 
4
Huntington's disease
 
5
Hemochromatosis
 

Poor posture and flexibility are common features in patients with CF. CF-related bone disease and abnormal respiratory mechanics lead to a high incidence of musculoskeletal pain, thoracic kyphosis, and vertebral fracture rates. All patients should have an annual musculoskeletal and postural assessment from childhood (age ~8 years), with monitoring and treatment of any musculoskeletal issues.

— Alex Horsley

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