CF Flashcards
symptoms of cystic fibrosis in digestive system?
- fat in stool, greasy, bulky and frequent stool
- constipation/flatulence/bloating
- stomach pain
- liver may be enlarged
- jaundice
- vomiting blood
how does CF affect digestive system
- proteins in cells don’t work right (cystic fibrosis transmembrane regulator- CFTR)
- CFTR controls the flow of water and salts in somatic cells, and when movement occurs, mucus is thickened
- CF mainly affects pancreas; making pancreatic enzymes thicker, blocking the ducts which causes a drop in pancreatic enzymes released— this causes type 1diabetes and glucose intolerance
what diet modifications are required for CF?
- balances diet
- proteins (15-20%) of calories; eggs, meat and soy
- iron helps to fight infection and carry oxygen in RBC; meats, dried fruit
- salt
- zinc; important for growth, healing, fighting infections; meat, liver, eggs and seafood
- calcium (risk of osteoporosis)
- more calorie intake (3750)
- vitamin supplements (A, D, E and K)
- enzyme supplements
what diet modifications are required for PKU?
- phenylalanine free diet
- low protein breads and pastas
- phenyl free foods include veggies, fruit, juice, pasta, rice and potatoes
- avoid high protein foods like meat, beans and eggs
how does CF affect different areas of the body
- affects endocrine glands (secrete mucus)
- sweat glands
- respiratory system: cilia hairs can’t move thick mucus out of smaller passages causing clogs, This cause a chronic cough and lung infections
- digestive system: thick n sticky mucus blocks pancreatic ducts, meaning no enzyme secretion to small intestine, meaning incomplete digestion and poor nutrient absorption
- reproductive systems: 95% males and 20% females are infertile due to clogging in vas deferens and mucus blocking cervix
- mutations in CFTR gene causing change in the body cells electrolyte transport system
how does PKU affect body systems?
- lack of phenylaline metabolism caused by deficiency in phenylaline hydrolyse
- causes mitochondrial dysfunction, impaired protein and neurotransmitter synthesis causes neurological problems which lead to seizures
what is phenylaline hydrolyse ?
the enzyme that breaks down amino acids and is later converted to tyrosine
inheritance patterns of CF
- autosomal recessive manner (presence of mutations in both copies of the gene for CFTR)
- 1 in 25 australians carry allele for CF
survival rates past and present for CF?
- in 1938, most babies with CF would die before their first birthday, now child mortality is at 50%
- life expectancy is 38
- between 1979 and 2005, mean age death increased from 12-28 years for males and 15-25 in females
inheritance patterns of PKU
- inherited in autosomal recessive pattern (a person has 2 copies of mutated gene
- each parent of a child with PKU carry one copy of the altered gene each
survival rates pst and present for PKU?
-PKU was first discovered in 1934, it doesn’t affect life expectancy but if left untreated can cause intellectual disability
available treatments for CF?
- antibiotics prevent lung infections
- anti inflammatory medications
- mucus- thinning drugs
- bronchodilators
- oral pancreatic enzymes
- ivacaftor (kalydeco) available for those 6+ who have certain gene mutations— this improves lung function, weight, salt and sweat levels
- vest therapy (loosens mucus)
- pulmonary rehabilitation
- nasal polyp removal
- oxygen therapy
- endoscopy and lavage (suctioning of mucus)
- feeding tube
- bowel surgery
- lung transplant
available treatments for PKU
limited protein diet
taking a PKU formula
support groups for those with CF
- CF face-to-face counseling
- E-mentoring program links adults with CF who can provide structured guidance and support
- begins blue
support groups for PKU
- metabolic dietary disorders association of australia (MDDA)
- the PKU association of NSW
what tests are being done to identify those with CF?
- sweat tests for high sweat chloride levels (chemicals used to stimulate sweat)
- genetic testing to detect mutated CFTR genes (can only be done once whilst a child is a new born)
- pre-natal diagnostic tests takes samples of amniotic fluid or placenta tissue
- genetic carrier testing (testing of saliva n blood to see if carrier of the CF gene mutation)
what tests are being done to identify those with PKU?
- blood tests from newborns, using a needle or a lancer to take a few drops from the heel
- screening tests (search presence of PAH gene mutation) additional tests include blood and urine test
what does PKU stand for?
phenyl-keto-nuria
what is PKU?
production of an enzyme called phenylaline hydrolyse converts amino acid phenylaline to tyrosine— if this enzyme isnt present then phenylaline accumulated in bloodstream and becomes toxic- causing damage to neurological system
how does CF affect body temp?
affects exocrine organs, including sweat glands,, body salts contained in sweat are high concentration because not enough is absorbed by the sweat glands into the blood. without salt in blood, people with CF have no recognition of thirst and dehydrate/ overheat
how does CF affect water ?
sodium regulates amount of water in and around cells, with too little salt, body holds onto water = less osmosis
genotypes and phenotypes of CF
- when two carriers have a child = 25% chance child with have CF, 50% chance will be a carrier, 25% unaffected
- when one CF and a CF carrier have a child = 50% of CF, 50% just a carrier
genotypes and phenotypes of PKU?
-when two carriers have a child= 25% of PKU, 50% chance child will be a carrier, 25% of neither
what is the genetic cause of CF?
depends on the 7th pair of chromosomes (genetic mutation)- causes problems with CFTR protein
what is the genetic cause of PKU?
gene alterations/mutations of PAH gene (lower levels of enzyme phenylaline hydroxlase) depends on 12th chromosome
what drug related treatments are done for those with PKU?
- drug sapropterin dihydrochloride (helps blood break down phenylaline)
- amino acid supplements to prevent phenylaline from entering brain
- enzyme replacement therapy
- gene therapy (objecting genes to break down phenylaline)
what is the cause of CF?
defect in the cells CFTR gene
newborn rates CF
1 in every 2,500 newborns born with CF
newborn rates PKU
one in every 15,000 newborns
statistics for carriers of allele (CF and PKU)
- 1 in 50 are carriers for the allele for PKU
- 1 in 25 are carriers for CF
