CF

• fat in stool, greasy, bulky and frequent stool • constipation/flatulence/bloating • stomach pain • liver may be enlarged • jaundice • vomiting blood

• 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

• 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

• 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

• 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

• 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

the enzyme that breaks down amino acids and is later converted to tyrosine

• autosomal recessive manner (presence of mutations in both copies of the gene for CFTR) • 1 in 25 australians carry allele 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

• 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

-PKU was first discovered in 1934, it doesn’t affect life expectancy but if left untreated can cause intellectual disability

• 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

limited protein diet taking a PKU formula

• CF face-to-face counseling • E-mentoring program links adults with CF who can provide structured guidance and support • begins blue

• metabolic dietary disorders association of australia (MDDA) • the PKU association of NSW

• 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)

• 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

phenyl-keto-nuria

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

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

sodium regulates amount of water in and around cells, with too little salt, body holds onto water = less osmosis

• 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

-when two carriers have a child= 25% of PKU, 50% chance child will be a carrier, 25% of neither

depends on the 7th pair of chromosomes (genetic mutation)- causes problems with CFTR protein