Cystic Fibrosis (=CF)

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Cystic fibrosis (CF)

Introduction

Signs and symptoms of CF

Diagnostic tests for CF

Treatment of CF

Side-effects of treatment for CF

[edit] Cystic Fibrosis

Introduction:

Cystic fibrosis (CF) is a lung disease that is inherited. It seems much more common in white North Americans (1 in 2,500 births) than in black North Americans (1 in 15,300 births). Asian North Americans have the lowest rate of cystic fibrosis (1 in 32,000).

The abnormality is located on chromosome 7 where two cystic fibrosis transmembrane regulator (CFTR) genes have been found to be mutated. Due to these relatively small genetic changes of a few amino acids on chromosome 7 all of the mucous producing glands in the body produce a mucous plug that closes off various glandular ducts in a multitude of organ systems.

The summation of these effects (mainly in the lungs, the pancreas and the liver) is that the life expectancy is significantly shortened to the point where in white people CF is the most common life shortening disease. Here are some of the organ systems affected:

Organ changes in Cystic fibrosis
Organ system:	Description of changes:
lung tissue	bronchial tree lining produces tenaceous mucous plugging up airways and causing chronic bronchitis
pancreas	1. digestive juices cannot reach gut leading to pancreatitis, digestive problems and malabsorption of food 2. 10% of CF patients develop insulin dependent diabetes mellitus
98% infertility in males	obstructive testicular problems and high proportion of congenital vas deferens maldevelopment
decreased fertility rate in women	due to highly viscous cervical secretions and breathing problems (low blood oxygen)
liver tissue	small gall fluid ducts clog up from abnormal tenaceous gall fluid leading to liver cirrhosis
protruding veins in the lower esophagus that lead to vomiting of blood	esophageal varices form as a result of "portal hypertension" from liver cirrhosis
pulmonary hypertension	increase of vascular resistance in the lung increases blood pressure in the pulmonary vessels and in the right heart . Can cause coughing up of blood, called hemoptysis
salt depletion	an abnormally high excretion of chloride through the skin leads to electrolyte imbalances with an overall loss of salt
nasal polyps	CF patients have a high risk of developing recurrent nasal polyps, which lead to nasal obstruction, nasal infections and chronic recurrent sinus problems
gall stones	abnormal secretions and dysbalance of soluble gall fluid components leads to gall stones and surgery
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[edit] Side-effects of treatment for CF

Apart from treating CF it is also important for the patient and the family to know that as with all treatment there are possible side-effects. The chronic lung condition is being treated for a long time, so, if corticosteroids are used for this the side-effects of this treatment can lead to stunted growth in children and to a tipping of the metabolic balance in the direction of diabetes (hyperglycemic effect).

Rarely corticosteroid use (particularly in higher doses) can cause hip fractures because of osteonecrosis of the ball of the hip joint. Antibiotics can have serious side effects as well. For instance, Tetracycline in the first years of life can cause malformation and permanent staining of teeth. Chloramphenicol for the more difficult to treat bacteria can on the longterm cause blindness and loss of feeling (optic atrophy and polyneuropathy). Aminoglycosides, another group of antibiotics, can cause hearing loss and balance problems as well as kidney damage. Chronic use of mucous loosening idodine containing expectorants can cause goiter (a benign thyroid tumor). Spironolactone, a water pill that is used for water retention from right sided heart failure and for pulmonary hypertension, can cause breast development (gynecomastia) , which is embarrassing in children, particularly in boys, and requires surgical removal in boys. High-dose pancreatic enzymes that are used to improve digestion can cause small bowel obstruction, colonic stricture (leading to large bowel obstruction) and to high uric acid levels, which can precipitate a gout attack. Overtreating diabetes with insulin can lead to life threatening hypoglycemia. These are only some of the most common side effects with regard to various treatment modalities used in treating CF. Your doctor can give you information about other side effects of treatments that are being used. Support groups for CF and participation in educational sessions is very advisable for patients and loved ones around the CF patient.

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References:

1. Noble: Textbook of Primary Care Medicine, 3rd ed., Copyright © 2001 Mosby, Inc.

2. National Asthma Education and Prevention Program. Expert Panel Report II. National Heart, Lung and Blood Institute, 1997.

3. Rakel: Conn's Current Therapy 2002, 54th ed., Copyright © 2002 W. B. Saunders Company

4. Murray & Nadel: Textbook of Respiratory Medicine, 3rd ed., Copyright © 2000 W. B. Saunders Company

5. Behrman: Nelson Textbook of Pediatrics, 16th ed., Copyright © 2000 W. B. Saunders Company

6. Merck Manual 1999. Section 19: Cystic fibrosis

7. Goldman: Cecil Textbook of Medicine, 21st ed., Copyright © 2000 W. B. Saunders Company

8. Ferri: Ferri's Clinical Advisor: Instant Diagnosis and Treatment, 2004 ed., Copyright © 2004 Mosby, Inc.

9. Rakel: Conn's Current Therapy 2004, 56th ed., Copyright © 2004 Elsevier