Cystic Fibrosis Issues - Essay Example

In cystic fibrosis, the CFTR gene is defective and the protein produced is dysfunctional. Hence, the normal movement of chloride ions is disrupted, producing thick aggregates of mucus that clog air passages resulting in breathing difficulty and chronic bacterial infections. Since mucus also accumulates in ducts of the digestive tract, the normal release of digestive enzymes is also affected, causing nutrient malabsorption. Furthermore, cystic fibrosis also causes too much salt to be excreted in the sweat glands, resulting in electrolyte imbalance.

Patients with cystic fibrosis present with recurrent respiratory infections, chronic coughing or wheezing, salty-tasting skin, greasy stools, pancreatic insufficiency, and weight loss.

The pattern of inheritance for cystic fibrosis is homozygous recessive. This means that the disease manifests only when two copies of the defective gene are inherited from the parents. Those people who harbor the mutation in one of the two copies do not present with symptoms and are called carriers. Although these carriers are technically not affected by the disease, they can still pass the defective gene to their offspring.

The standard approach to the diagnosis of cystic fibrosis is made by measuring the chloride content of an individual’s sweat. A value of more than 60 mEq/L salt concentration is diagnostic of this condition and differentiates cystic fibrosis from other disease entities that also present with salty sweat. However, detecting CRTF mutations through DNA testing is still considered the gold standard for the diagnosis of this disease.

In newborn children, the diagnosis of cystic fibrosis is made by measuring the protein trypsinogen in the baby’s blood coupled with sweat chloride testing.

Like the rest of single-gene disorders, cystic fibrosis can be cured theoretically by replacing the faulty gene with a functional one in a technique called genetic therapy. However, as of the moment, this modality is far from complete. Hence, the current management of cystic fibrosis consists of symptomatic treatments such as airway clearance therapy, antibiotic treatments to control infections, regular administration of bronchodilators, and pancreatic enzyme replacement therapy to improve digestion.

It is estimated that more than 10 million individuals carry one defective CFTR gene in their chromosomes but are non-symptomatic. The actual incidence of cystic fibrosis is 1 in every 2,500 live births in the U.S. alone, making it the most common fatal genetic disease among Caucasians. The predicted median age of survival in these patients is 30 years old.