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Cystic Fibrosis

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Cystic Fibrosis

 

 

 

 

 

Cystic Fibrosis is an inherited autosomal recessive disorder. Gilbert (1996) notes that 1 in 25 people carry the gene in the populations affected by the disease. Carriers of the disease don’t actually have the symptoms of cystic fibrosis; it is only when a baby is conceived by two carriers of the condition that he/she will show the characteristics of cystic fibrosis (Gilbert, 1996).

 

What is Cystic Fibrosis?

 

Cystic Fibrosis occurs when there is a fault in the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is responsible for managing salt ions across the membranes of the cells as well as regulating sweat, digestive fluid and mucus (Quinton, 2007). As a result of this fault, mucus builds up causing chest infections, shortness of breath and regular coughing. The lungs and pancreas are the main organs that are affected (Gilbert, 1996). The lungs, respiratory passage, nose and sinuses fill with sticky mucus that causes sever respiratory infections. Treatment usually involves antibiotics, but as the infections become more common and the bacteria become more resistant to treatment antibiotics become less affective (Gilbert, 1996).

 

The other organ most affected by cystic fibrosis is the pancreas. Cystic Fibrosis affects specific enzymes in the pancreas which results in digestive problems as food is not digested and absorbed properly (Cohn et al, 1998). As a baby starting out in the world; weight gain and growth of organs is slow and there is the chance of developing anaemia due to specific malabsorption of foods containing iron (Gilbert, 1996). Treatment involves regular medication with pancreatic enzyme replacement products. A highly nutritious diet is also important to ensure that the child starts to grow and gain weight in line with other children (Alves et al, 2007).

 

What are the symptoms of Cystic Fibrosis?

  • Symptoms often begin in early childhood with obstructions to the bowel caused by sticky waste products. Five to ten percent of babies with cystic fibrosis have these symptoms (Blackman, Deering-Brose, McWilliams et al, 2006).

    As the child grows they may experience stunted growth where they find it hard to gain weight or height. This is due to the pancreas not being able to produce the enzymes necessary to digest and absorb food (Cohn et al. 1998).
  • Ongoing chest infections, coughing and shortness of breath.
  • Excess salt on the skin which is excreted by the sweat glands in the body due to the protein CFTR not being able to manage salt ions in the body affectively (Gilbert, 1996).
  • Prolapse of the rectum which occurs in 5-10% of children that suffer from cystic fibrosis.

Management of Cystic Fibrosis

 

It is important to point out that there is no cure for cystic fibrosis. Lung problems and infections are the most serious aspect of cystic fibrosis. Frequent infections need prolonged treatment with antibiotics and can have an impact on the quality of life a child has. Frequent trips to hospital and the time required to comply with prescribed treatments can place stress on routines like school and weekend activities (Gilbert, 1996).

Diet is also important for children with cystic fibrosis. The help of a dietician is important to ensure enough high dense calories are being consumed to maintain growth and development. Gilbert (1996, p87) notes that school meals need to be monitored and teachers need to be informed of the specific needs of a child suffering from cystic fibrosis. Frequent oily, bulky and offensive stools can be a difficult problem, and may indicate the presence of to much fat in the diet.

Transplants and gene therapy can assist with some of the affects of cystic fibrosis. Gene therapy main goal is to improve the functions of the CFTR protein. Heart or lung transplants may also be required if the damage to these organs cannot be repaired. With a lung transplant, it is good practice to replace both lungs as the remaining lung may contain bacteria which could infect the transplanted lung.

 

 

 

References

 

Alves Cde. A., Aguiar R.A., Alves A.C., Santana M.A. (April 2007). "Diabetes mellitus in patients with cystic fibrosis". J Bras Pneumol 33 (2): 213–21.

 

Cohn J.A., Friedman K.J., Noone P.G., Knowles M.R., Silverman L.M., Jowell P.S. (September 1998). "Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis". N. Engl. J. Med. 339 (10): 653–8.

 

Blackman S.M., Deering-Brose R, McWilliams R, et al. (October 2006). "Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis". Gastroenterology 131 (4): 1030–9. 

 

Gilbert, P. (1996). The A-Z Reference Book of Syndromes and Inherited Disorders 2nd Ed. London: Chapman and Hall Publishing.

 

Quinton, P.M. (June 2007). Cystic fibrosis: lessons from the sweat gland.Physiology (Bethesda) 22 (3): 212–25.

 

Read 3843 times Last modified on Saturday, 24 August 2013 03:42

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