Cystic Fibrosis (CF)

Introduction to Cystic Fibrosis
Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. "Inherited" means that the disease is passed through the genes from parents to children. CF causes the mucus in the lungs to become thick and sticky. This mucus then clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to problems such as repeated lung infections and lung damage.

Cystic fibrosis also causes the sweat to become very salty. As a result, the body loses large amounts of salt when the person sweats. This in turn can upset the balance of minerals in the blood and cause dehydration ,increased heart rate, tiredness, weakness, decreased blood pressure, heat stroke, and, rarely, death.

Types of Cystic Fibrosis
CF is an autosomal recessive disease i.e. people who have CF get two faulty CF genes - one from each parent. The parents carry one copy each of the faulty gene, but they typically do not show signs and symptoms of the condition themselves.
The human body has 23 pairs of chromosomes in each cell which are:-

  • Autosomes (22 pairs) - Not sex determining chromosomes. There are equal number of copies of autosomes in both males and females. They determine the physical characteristics of an individual.
  • Sex chromosome (1 pair) - There is only one pair of Sex chromosome in each human. XX in females & XY in males.

For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected.

Signs / Symptoms of Cystic Fibrosis
The pattern of development of CF and the severity of its symptoms varies among individuals. The disease is sometimes obvious soon after birth, but in some cases of CF; they are not detected for months (in infancy) or years (in childhood). One of the first signs of cystic fibrosis (CF) is that skin tastes salty. Most of the other signs and symptoms of cystic fibrosis develop later and may include:

  • Infections that block the airways that causes frequent coughing
  • Frequent bouts of sinusitis, bronchitis, and pneumonia
  • Frequent wheezing or pneumonia
  • Pneumothorax (abnormal presence of air in the pleural cavity resulting in the collapse of the lung)
  • Persistent diarrhea
  • Bulky foul-smelling, greasy stools
  • Severe constipation
  • Pancreatitis
  • Rectal prolapse
  • Liver disease
  • Diabetes
  • Gallstones
  • Infertility
  • Dehydration
  • Chronic cough with thick mucus
  • Salty-tasting skin
  • Poor growth
  • Abdominal swelling
  • Gassiness
  • Vomiting

Related Tests to Cystic Fibrosis

  • Sweat Test
  • Chest X-rays
  • Blood tests to evaluate nutritional status
  • Bacterial studies that confirm their growth in the
  • Pulmonary function tests (PFTs)