Cystic Fibrosis (superlative disease)

Question 1

What is cystic fibrosis?

Answer 1

An inherited autosomal recessive genetic condition where chromosome 7 which encodes the CFTR protein is faulty. This causes a faulty protein to be created which results in impaired transport of some ions and water within cells. This results in ducts to become obstructed with mucus.

Question 2

What does the CFTR protein do?

Answer 2

Channel protein sitting within a membrane controlling the movement of water and chloride ions across the membrane.
Many mutations on the CFTR protein therefor hard to treat.
As chloride ions can’t be moved it results in sticky mucus to build up outside of cells causing scar formation.

Question 3

What are common results on the body seen from defects of the CFTR protein?

Answer 3

Leads to respiratory diseases-
Thickened mucus is difficult to clear and so predisposes the patient to reoccurring infections leading to scaring on the lungs

High amount of sodium in sweat- resulting in lost salt in the blood vessels which results in patients not being able to detect first and therefore being dehydrated

Pancreatic insufficiency-
Abnormal ion transport leads to secretions being dehydrated and stagnate in pancreatic duct, leading to damage of the duct leading to damage of pancrease and links to diabetes.

Biliary disease-
Bowl duct damaged causing concentrated bile which damages lumen wall.

Liver scaring-
Scaring of the liver due to ion transport.

Gastrointestinal disease-
Changes of fluid movement in the intestines causing constipation and problems.

Infertility-
Most males are infertile.
Females have thicker cervical mucus therefor struggle with fertility.

Question 4

What is the epidemiology?

Answer 4

Most common in white/ Caucasians people, both parents have to carry the gene.
Normally diagnosed early in life which increases life expectancy.

Question 5

What are the symptoms?

Answer 5

serious bowl obstructions at birth,
Signs of jaundice at birth,
persistent cough,
Coughing fits,
Inflammation of the lungs therefore wheezing, SOB.
Reoccurring chest and lungs infections as mucus is a good breading ground for bacteria,
Large smelly stools,
Malnutrition and poor weight as well as delayed puberty.

Nasal polyps,
Arthritis,
Diabetes,

Question 6

What are some of the treatments?

Answer 6

Medication (often to loosen secretions)-
Bronchodilators,
Hypertonic saline nebuliser,
Antibiotics,
Steroids,
Routine vaccinations,
Digestive enzyme creon,

Dietary advice,
Education,
Exercise,

Physio-
Postural drainage,
Percussions,
Breathing exercises,
Suction,

Lung transplante,

Question 7

What is the prognosis?

Answer 7

No cure or prevention, however almost half of CF patients live upton40:

Question 8

What can be used in babies to identify cystic fibrosis?

Answer 8

Heel prick test

Question 9

What is the chance of 2 carries with CF of having an affected baby and there chance of having a baby who carries CF?

Answer 9

1-in-4 chance of having an affected baby and a 1-in-2 chance that their baby will be a carrier.