CYSTIC FIBROSIS

RUPESHMOHANDAS
 INTRODUCTION
• Cystic fibrosis also known as CF or mucoviscoidiosis
is a common recessive genetic disease which affects
the entire body, causing progressive disability and
often early death.

• Approximately 30,000 Americans have CF, making it

one of the most common life shortening inherited
disease in United States.
ETIOLOGY
• Caused by a mutation in the gene for the
protein cystic fibrosis transmembrane
conductance regulator (CFTR).

• This mucus builds up in the breathing

passages of the lungs and in the pancreas,
the organ that helps to break down and
absorb it.
 RISK FACTOR
• Family history. Because cystic fibrosis is an inherited disorder, it tends
to run in families.

• Race. Although cystic fibrosis occurs in all races, it is most common in

white people of northern European ancestry.
• Clinical disease requires disease causing mutations
in both copies of the CFTR gene.

• Children who inherit a faulty CFTR gene from each

parent will have CF.

• Children who inherit one faulty CFTR gene and one

normal CFTR gene are CF carriers. They usually
have no symptoms of CF and live normal life.

• They can pass the faulty CFTR gene to their

children.
 PATHOPHYSIOLOGY
• Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.
These secreted fluids are normally thin and slippery.

• But in people with cystic fibrosis, a defective CFTR gene loss its function as a
chloride ion transporter caused by misfolding protein.

• Abnormal sodium and chloride transport across cell membrane, causes the
secretions to become sticky and thick.

• Instead of acting as a lubricant, the secretions plug up tubes, ducts and

passageways, especially in the lungs and pancreas.
 CLINICAL MANIFESTATION

Respiratory signs and symptoms Digestive signs and symptoms

• Foul-smelling, greasy stools
• A persistent cough that produces thick
• Poor weight gain and growth
mucus (sputum) • Intestinal blockage, particularly in newborns
•Wheezing (meconium ileus)
• Severe constipation
•Breathlessness
•Exercise intolerance
•Repeated lung infections
•Inflamed nasal passages or a stuffy nose
Symptoms in newborns may include :
• Delayed growth
• Failure to gain weight
• No bowel movement (meconium)
• Salty-tasting skin.

• Adults diagnosed with cystic fibrosis are more likely to have atypical
symptoms, such as recurring bouts of inflamed pancreas (pancreatitis),
infertility and recurring pneumonia.
 TEST AND DIAGNOSIS
• New born screening – a blood sample is checked for higher than normal levels of a

chemical (immunoreactive trypsinogen, or IRT) released by the pancreas.

• Sweat test – A high salt level in the patient’s sweat is a sign of the disease.

• Genetic test – DNA samples from blood or saliva can be checked for specific defects

on the gene.

• Sputum culture – Spit (sputum) is analysed for bacteria.

• Imaging tests – Damage to your lungs or intestines can be monitored with X-rays, CT

scans and MRI.

 COMPLICATIONS
Respiratory system complications

• Damaged airways (bronchiectasis)

• Chronic infections.

• Growths in the nose (nasal polyps)

• Coughing up blood (hemoptysis)

Digestive system complications

• Nutritional deficiencies

• Diabetes

• Blocked bile duct

Reproductive system complications

• Almost all men with cystic fibrosis are infertile because vas deferens is
either blocked with mucus or missing entirely.

• Certain fertility treatments and surgical procedures make it possible for

men with cystic fibrosis to become biological fathers.

• Although women with cystic fibrosis may be less fertile than other women,
it's possible for them to conceive and to have successful pregnancies.
 Managing Cystic Fibrosis
• Antibiotics to treat and prevent lung infections.

• Anti-inflammatory medications to lessen swelling in the airways.

• Mucus thinning drugs to help you cough up the mucus, which can improve
lung function.

• Bronchodilators can help to keep your airways open by relaxing the muscles
around your bronchial tubes.

• Oral pancreatic enzymes can help your digestive tract to absorb nutrients.
 REFRENCES

• mayoclinic.org/diseases-conditions/cystic-fibrosis.
• medicalnet.com/cystic_fibrosis/article
• cysticfibrosis.org.uk