PKU and cystic fibrosis Flashcards
What is cystic fibrosis?
Recessive, single gene disorder
cystic fibrosis transmembrane regulator (CFTR) creates thick mucus that clogs vital organs responsible for nourishing body e.g. lungs, intestines, pancreas, etc
The regulator controls fluid and salt our of body and changes it into a thick mucus.
Name five symptoms of cystic fibrosis?
chest infections
lack of digestive enzymes
increased salt loss (salty tasting skin)
poor growth
frequent respiratory infections
What is PKU?
Phenylketonuria
production of enzyme (phenylalanine hydroxylase)
converts amino acids phenylalanine to tyrosine
causes the phenylalanine to accumulate in the bloodstream
become toxic=brain damage
also a recessive, single gene disorder
Name four symptoms of PKU
mental retardation
epileptic seizures
failure to produce normal skin pigmentation
eczema
How does cystic fibrosis affect the digestive system?
creates thick mucus that clogs certain organs, such as the lungs, pancreas, and intestines=malnutrition
How does PKU effect body?
inborn error of phenylalanine (Phe) metabolism caused by the deficiency of phenylalanine hydroxylase
deficiency leads to the accumulation of Phe + its metabolites in tissues +body fluids of PKU patients.
Diet modification for cystic fibrosis?
supplemented with pancreatic extract, large doses of vitamins A, D and K
avoid foods with empty calories i.e. sugary drinks
Diet modification for PKU
food low in phenylalanine
should not eat milk, fish, cheese, nuts, beans, or meat.
Treatments for cystic fibrosis
no cure
Nasal and sinus surgery. …
Oxygen therapy. …
Noninvasive ventilation. …
Feeding tube. …
Bowel surgery. …
Lung transplant.
a special diet low in fat and high in carbs and proteins is proscribed
supplemented with pancreatic extract and vitamins
Treatment of PKU
no cure
Enzyme replacement therapy.
Low protein diet.
Formula.
Medication (kuvan=amino acid degradation)
How can an individual be tested for both dieases?
At birth a blood sample is taken from pricking the baby’s heel within the following two to three days
Inheritance pattern of PKU
autosomal recessive both the mother and father must have and pass on the changed gene
Inheritance pattern of cystic fibrosis
autosomal recessive pattern and is not inherited solely from the mother or father
Genetic causes of cystic fibrosis
mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein
mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body
Genetic causes of PKU
change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the enzyme needed to break down phenylalanine
Rate and prevalence of cystic fibrosis in australia
Approximately 1 in 3,700 people in Australia have CF.
1 in 25 Australians are carriers of a genetic mutation responsible for CF.
Rate and prevalence of PKU in Australia
Around one in 10,000 babies born in Australia
Support groups PKU
National Society for Phenylketonuria. Phenylketonuria World Wide Support Group. Metabolic Dietary Disorders Association of Australia.
Support groups cystic fibrosis
CF Peer Connect is a one-to-one peer support program for people with CF and their family members ages 16 and older.
What is COPD?
Chronic obstructive pulmonary disease
What is emphysema?
Disease of the lungs that damages alveoli
-caused by long term irritant exposure
How does emphysema affect alveoli?
-alveoli lose their elasticity and may break down
-reduces SA so inadequate for gas exchange
-difficulty in ventilating the lungs
What is chronic asthma?
Long term condition causing narrowing of the airways and difficulty breathing.
-can be inflammation
-mucous build up
-muscle contraction in the airways
What is bronchitis?
Lung cancer causing excessive mucus production in the bronchi
-due to irritation to the mucus membrane that lines air passages
