Early Indicators of Cystic Fibrosis

Cystic fibrosis is a hereditary disorder that disrupts cells programmed to produce lubricating body fluids such as sweat, digestive acids and respiratory mucus. Although these cells are still able to produce fluids, the secretions are abnormally thick, sticky, and detrimental to the optimal functioning of several body systems. People diagnosed with cystic fibrosis experience ongoing problems with plugged lung passageways, blocked digestive ducts and disturbed pancreatic processes.

One of the earliest indications that the cystic fibrosis gene, specifically the cystic fibrosis transmembrane conductance regulator gene, has expressed itself in an individual is a problem with intestinal blockage called meconium ileus that happens soon after birth. Additional early symptoms that may not manifest themselves until adolescence or even adulthood include:

  • Chronic diarrhea that is not alleviated by dietary changes or medication.
  • A condition called “failure to thrive” is indicated in cystic fibrosis sufferers who have healthy appetites but fail to gain weight or grow normally.
  • Breathing difficulties involving frequent wheezing and coughing that are not attributed to respiratory illnesses.
  • Perspiration that has an unmistakably salty taste.

Constantly suffering from lung infections is another sign that someone may have cystic fibrosis. In the pancreas, coagulated mucus sticks to the inner walls of ducts that normally allow digestive enzymes to enter the small intestines. Without these enzymes, the intestines cannot properly absorb nutrients and fat needed by the body to maintain good overall health.

A diagnosis of cystic fibrosis can be determined immediately after a child is born by screening infants that may harbor the CF gene. Diagnosis involves a sweat or genetic test to confirm the existence of the condition so that treatment measures can be initiated as soon as possible. Sweat tests are preferred over genetic testing since scientists have discovered over 1000 genetic mutations responsible for the cystic fibrosis gene. Genetic testing is only used when a sweat test fails to provide confirmation of the disease because screening all known mutations is not feasible.

Although a cure for CF has not been discovered, drug therapies, portable nebulizers, oxygen concentrators, like the Inogen One, specialized medical equipment designed to keep airways clear of mucus and eating a healthy diet of special “CF” foods can effectively improve the lives and health of cystic fibrosis patients.

 

Resources:
http://www.cff.org (Cystic Fibrosis Foundation)
http://www.mayoclinic.com/health/cystic-fibrosis/DS00287
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/
http://www.nhlbi.nih.gov/health/health-topics/topics/cf/

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