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Cystic Fibrosis Introduction

 

Cystic fibrosis (CF) is a rare genetic disorder that is inherited from both parents. Cystic Fibrosis is caused by a defective gene that codes for a protein responsible for salt (sodium chloride) transport in the body's exocrine glands.  Cystic Fibrosis causes different glands in the body to be defective, including the bronchial glands, pancreas, sweat glands, and glands of the digestive system.  Cystic Fibrosis is the most common autosomal recessive genetic disorder in Caucasians.  This condition affects Caucasians with northern European ancestry more frequently than other populations.  Men and women are affected equally.


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Primary Organs Affected:

 

Lungs: The glands in the lungs and bronchial tubes produce a thick, sticky mucus that creates blockages in the air passages, resulting in breathing difficulties, lung infections, and pneumonia.

 

Pancreas: The pancreas fails to produce certain digestive enzymes, which, usually, leads to nutritional malabsorption, difficulties with fat metabolism, diarrhea, and foul-smelling stools.  Due to the many problems associated with malnutrition, a child with Cystic Fibrosis is often underweight and undersized. 

 

Liver: Digestion and overall liver functioning is disrupted by the plugging of small bile ducts.

 

Skin: Persons with this condition may exhibit bouts of profuse sweating, caused by the malfunctioning of sweat glands.  This often causes the loss of excessive concentrations of mineral salts, especially salts.

 

Small Intestines: Roughly 1 in 10 newborns will require surgery to remove thick stools, obstructing the gut.

 

Reproductive: There is often an absence of small ducts in persons suffering from Cystic Fibrosis, such as the vas deferans.  This renders one infertile.

 

Cystic Fibrosis is fatal, with a median survival of 30 years. The Cystic Fibrosis gene was identified in 1989.  This discovery has enabled researchers to begin developing new approaches to treatment through gene therapy.

 

 

Cystic Fibrosis Symptoms

 

A cystic fibrosis patient may have any or all of the following symptoms:

  • Recurrent chest infections with a cough and difficulty breathing

  • Diarrhea

  • Greasy, foul-smelling stools

  • Swollen abdomen and wasted limbs

  • Clubbing of the fingers and toes

  • Salty skin

Cystic Fibrosis Symptoms

 

According to the Cystic Fibrosis Foundation (1):

  • Cystic Fibrosis affects about 30,000 people in the US, 20,000 Europeans, and 3,000 Canadians

  • Approximately 12 million people are carriers in the US

  • 1 in 22 Caucasians are Cystic Fibrosis carriers

  • About 2,500 babies will be born with Cystic Fibrosis this year.

  • Cystic Fibrosis affects 1 in every 1,600 births in Caucasians, 1 in every 13,000 births in African Americans, and 1 in every 50,000 births in Asian Americans

 

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