Cystic Fibrosis – Causes, Signs and Symptoms

Cystic Fibrosis – Causes, Signs and Symptoms

Cystic fibrosis is an inherited condition that causes severe damage to the lungs, gastrointestinal tract, and other systems of the body. The disorder affects the cells that produce mucus, digestive fluids, and sweat. These secreted products are usually slippery and thin but with cystic fibrosis, they become thick and sticky.

The secretions then obstruct ducts, tubes, and passageways, especially the lungs and the pancreas and this results in various complications.

Causes

Cystic fibrosis is caused by a genetic mutation that results in a specific protein which regulates the movement of electrolytes in and out of the cells to change and become dysfunctional.

In order for a child to develop the condition, they need to inherit a copy of the affected gene from each parent. If they receive a copy of the defective gene from only one parent then they won’t develop the condition but will become carriers of the gene thereby increasing the risk of passing it to their own offspring.

Risk factors for developing cystic fibrosis include:

  • Having a family history of the disease since it is an inherited disorder.
  • Being white, especially of Northern European ancestry. With that being said, cystic fibrosis can occur in all races.

Cystic Fibrosis affects lungsSigns and Symptoms

The signs and symptoms of cystic fibrosis will depend on the severity of the condition with some affected individuals not experiencing any issues until their teenage or adult years.

The following are signs and symptoms that affected patients may present with in regard to the respiratory system:

  • A persistent cough that is associated with the production of a thick mucus
  • Shortness of breath
  • Wheezing
  • Exercise intolerance
  • Congested nose or inflamed nasal passages

Gastrointestinal issues may include:

  • Poor weight gain and stunted growth
  • Foul-smelling and fatty/greasy stools
  • Severe constipation which can result in a rectal prolapse due to frequent straining
  • Obstruction of the intestines, especially in newborns.

Complications

Respiratory complications may include:

  • Chronic airway infections due to the thick mucus being an ideal breeding ground for fungi and bacteria.
  • Bronchiectasis (damaged airways) due to persistent inflammatory processes.
  • Coughing up blood due to thinning of the walls of the airways.
  • Respiratory failure due to damaged lung tissue.
  • Pneumothorax (collapse of the lung) which occurs more commonly in patients with cystic fibrosis.

Gastrointestinal complications may include:

  • Diabetes due to dysfunction of the pancreas. About 30 percent of patients with cystic fibrosis develop diabetes by 30 years of age.
  • Nutritional deficiencies due to the decreased passage of digestive enzymes from the pancreas to the intestines.
  • The bile duct which carries bile from the liver to the gallbladder and small intestine can also become obstructed and this can lead to liver-related problems and even gallstone formation.

Pacific Reproductive Center

Pacific Reproductive Center is a specialized medical facility that performs a procedure known as preimplantation genetic testing. The process involves identifying defects or chromosomal abnormalities within fertilized embryos that are created for in vitro fertilization for women and couples who are choosing this route for conception.

The process involves using specific genetic analysis techniques such as fluorescent in situ hybridization (FISH) or polymerase chain reaction (PCR) tests.

The service is offered for those women and couples who present with the already mentioned factors that can increase the risk of their child being born with a genetic disorder such as cystic fibrosis. The normal embryos will be chosen for the purposes of in vitro fertilization and those with any defects will be discarded.

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