CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder, which means you get if from your parents at birth. It affects the way your body makes mucus, a substance that helps your organs and systems work. Mucus should be thin and slippery, but when you have CF, it becomes thick and glue-like. This blocks tubes and ducts throughout your body.

 

Symptoms: – 1) Trouble with bowel movements or frequent. 2) Greasy stools. 3) Wheezing or trouble breathing. 4) Frequent lung infections. 5)  Infertility, especially in men. 6) Trouble growing or gaining weight. 7) Skin that tastes very salty. 8) A persistent cough that produces thick mucus (sputum). 9) Exercise intolerance, repeated lung infections, inflamed nasal passages or a stuffy nose, recurrent sinusitis, , poor weight gain and growth, intestinal blockage, chronic or severe constipation, which may include frequent straining while trying to pass stool, eventually causing part of the rectum to protrude outside the anus (rectal prolapse)

Causes: – In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition.

Risk factors: – Because cystic fibrosis is an inherited disorder, it runs in families, so family history is a risk factor. Although CF occurs in all races, it’s most common in white people of Northern European ancestry.

 

  • Complications: – Respiratory system complication: – 1) Damaged airways (bronchiectasis). 2) Chronic infections.3) Growths in the nose (nasal polyps Coughing up blood (hemoptysis) 4) Pneumothorax Respiratory failure. 5) Acute exacerbations. Digestive system complications: – 1) Nutritional deficiencies. 2) Diabetes.  3) Liver disease.  4) Intestinal obstruction. 5) Distal intestinal obstruction syndrome (DIOS). Reproductive system complications: – 1) Infertility in men. 2) Reduced fertility in women. Other complications: – 1) Thinning of the bones (osteoporosis).  2) Electrolyte imbalances and dehydration.  3) Mental health problems.

Treatment:– Medications that target gene mutations, including a new medication that combines three drugs to treat the most common genetic mutation causing CF and is considered a major achievement in treatment.

  • Antibiotics to treat and prevent lung infections
  • Anti-inflammatory medications to lessen swelling in the airways in your lungs, mucus-thinning drugs, such as hypertonic saline, to help you cough up the mucus, which can improve lung function
  • Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchial tubes
  • Oral pancreatic enzymes to help your digestive tract absorb nutrients
  • Stool softeners to prevent constipation or bowel obstruction, acid-reducing medications to help pancreatic enzymes work better,
  • Specific drugs for diabetes or liver disease, when appropriate

Medication that target genes: – 1) The newest combination medication containing elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people age 12 years and older and considered a breakthrough by many experts.

2) The combination medication containing tezacaftor and ivacaftor (Symdeko) is approved for people age 6 years and older.

  • The combination medication containing lumacaftor and ivacaftor (Orkambi) is approved for people who are age 2 years and older.
  • Ivacaftor (Kalydeco) has been approved for people who are 6 months and older

 

Prevention: – If you or your partner has close relatives with cystic fibrosis, you both may choose to have genetic testing before having children. The test, which is performed in a lab on a sample of blood, can help determine your risk of having a child with CF. If you are already pregnant and the genetic test shows that your baby may be at risk of cystic fibrosis, your doctor can conduct additional tests on your developing child. Genetic testing isn’t for everyone. Before you decide to be tested, you should talk to a genetic counselor about the psychological impact the test results might carry.

By – Nursing Tutor- : Ms. Janet Subba
Department – Dept. of Nursing
UCBMSH Magazine – (YouthRainBow)
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