Cystic Fibrosis

Interdisciplinary Management

•Physiotherapist - ACBT, chest percussion, PEP •Dietician - advice on calorie intake •GP •Nurse

Clinical Features

•Salty tasting skin •Slow weight gain and failure to thrive •Lung disease •Recurrent chest infections •SOB (dysponeas) •Wheezing, coughing, pneumonia •Foul smelling stools •Stomach ache •Cough •Clubbing •Older patients might develop CF related diabetes due to a reduction in insulin production. •Adults are prone to osteoporosis (due to nutritional problems and adverse affects of steroid medication).

Progression

Chronic-progressive Aspects of relapsing-remitting

What is cystic fibrosis?

Cystic fibrosis is a genetic autosomal disease which affects chromosome 7. This results in changes to the CFTR protein which changes the properties of mucus in the body making it more viscous and difficult to clear from the airways (impaired mucocilliary clearance). It is characterised by chronic airway infection and inflammation.

Outcome Measures

•Lung Function Test - Measures FEV1. Children with cystic fibrosis on average lose 2-4% of their lung function each year. Making it an important function to monitor to seek ways to maintain or improve lung function. •Body Mass Index (BMI) - People with CF have difficulty digesting food and maintaing body weight. Body mass is one way of monitoring this. •Sputum Production - not clinically validated.

Risk Factors

•2 parents who are "CF carriers" - they both have 1 faulty CFTR gene. •Family history of CF or relative with CF •Caucasians have a higher risk of having CF (1 in 25 are a carrier) •1 in 2500 births

Prognosis

•Average lifespan is 37 years old. Death is usually due to lung complications. •Prognosis can be linked to variability in FEV1 •Pancreatic sufficiency, birth cohort (era born in) & pneumonia infections all contribute to likely prognosis

Pathophysiology

•Chromosome 7 codes for the CFTR protein which regulates ion transport. Ion transport may be defective in CF leading to low or abnormal concentration of salt in airway surface fluid. This leads in increasingly viscous mucus causing impaired secretion clearance due to an impaired mucocilliary escalator. This leads to frequent infection and lung destruction (Pryor and Prasad). CF primarily affects the respiratory and digestive systems but can also lead to further complications such as; liver disease, diabetes and low bone mineral density. •Also affects the digestive system as the mucus blocks the pancreas meaning that digestive enzymes do no make it to the GI tract to digest food. Simple version: Respiratory: CF causes mucus within the lining of the lungs to have an increased viscosity and which is sticker for bacteria - promoting infection and inflammation which leads to structural damage and impaired gas exchange.

Diagnosis

•Guthrie Heel Prick Test - this is usually done 48hours after birth. This is a screening test for rare metabolic disorders. One of the tests measure pancreatic enzymes - abnormal levels can indicate CF and further testing from that blood sample will be used to confirm. •Sweat Test - This involves analysing the salt concentration in sweat taken from a small area of the arm. In CF there is an excessive concentration of salt in the sweat. •Carrier Testing - If there is a family history of known or suspected CF then a blood test can be used to determine whether someone is the carrier of the CF gene. •Routine ultrasound - showing ecogenic bowel