Cystic Fibrosis

Cystic fibrosis (CF), or mucoviscoidosis, is a hereditary disease that affects mainly the lungs and digestive system, causing progressive disability. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply cystic fibrosis.

Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucus production, as well as a less competent immune system, results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea, and potential infertility (mostly in males, due to the condition Congenital bilateral absence of the vas deferens) result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood; these include meconium ileus, failure to thrive, and recurrent lung infections.

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTCR). The product of this gene is a chloride ion channel important in creating sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) of the biliary tract ("cystic" being a generic term for all that is related to the biliary vesicle and/or the bladder), first recognized in the 1930s.

Gene therapy holds promise as a potential avenue to cure cystic fibrosis

Disorders Detected By Other Technologies

1.  Galactosemia
2.  Congenital Hypothyroidism
3.  Congenital Adrenal Hyperplasia
4.  G6PD
5.  Cystic Fibrosis
6.  Biotinidase
7.  Hemoglobinopathies