Cystic fibrosis is a genetic disorder that affects the lungs, digestive tract, and other organs. Sticky mucus accumulates in the organs, mainly the lungs and pancreas. It is a hereditary disease caused by defective genes that can be inherited from generation to generation. In people with cystic fibrosis, thick mucus blocks the airways and makes breathing difficult.
Mucus also blocks the pancreatic duct and causes digestive problems.
Babies and children with cystic fibrosis may not be able to absorb essential nutrients from the foods that they eat. CF, both chronic (long-term) and progressive (worsening over time), affects the liver, sinuses, intestines, and genitals.
How Common Is Cystic Fibrosis (CF)?
Among Caucasian(white person) children in the United States, the incidence of cystic fibrosis is 1 in 2500-3500 live births. CF affects about 1 in 17,000 black newborns and 1 in 31,000 Asian newborns.
What Causes cystic fibrosis (CF)?
Cystic fibrosis is a genetic disease.
Cystic Fibrosis patients inherit two defective genes, one from each parent.
CF is considered recessive because it requires two genetic mutations to have the disease itself. (The old name for genetic variants is genetic mutation), which means your parents do not have to have Cystic Fibrosis to affect you as having Cystic Fibrosis. In fact, many families do not have a family history of cystic fibrosis.
If there is no history of cystic fibrosis in the family, the person with the genetic mutation is called a carrier. That’s roughly 1 in 31 of the US population.
You may an asymptomatic carrier of cystic fibrosis.
Symptoms of Cystic Fibrosis (CF).
CLASSIC CYSTIC FIBROSIS.
- Thrive failure (weight or rate of weight gain is significantly below that of other children of similar age and sex).
- Loose or oily stools.
- Breathing problems.
- Recurrent wheezing.
- Frequent lung infections (recurrent pneumonia or bronchitis).
- Recurrent sinusitis.
- Painful cough.
- slow growth
ATYPICAL CYSTIC FIBROSIS.
People with atypical cystic fibrosis may become adults when they are diagnosed with atypical cystic fibrosis. Respiratory signs and symptoms include:-
- Chronic sinusitis.
- Respiratory problems possibly diagnosed as asthma or chronic obstructive pulmonary disease (COPD).
- Frequent attacks of pneumonia.
Other signs and symptoms of atypical cystic fibrosis include:–
- Dehydration or heat stroke that reveals abnormal electrolyte levels.
- Fertility problems.
- Pancreatitis.
- Unintended weight loss.
- Diarrhea.
Diagnostic tests for cystic fibrosis.
Most CF patients are diagnosed in childhood. Doctors do this by looking at your family history and using several tests and methods. These include:–
- Newborn screening.
- Sweat test.
- Genetic tests.
- Chest X-ray.
- Sinus X-rays.
- lung function test.
- Sputum culture.
- Nasal potential difference (NPD).
- Intestinal current measurement (ICM).
Treatment for cystic fibrosis.
- Keeping airways clear.
- Medications for cystic fibrosis.
- Surgeries for cystic fibrosis.