CF Flashcards
1
Q
symptoms of cystic fibrosis in digestive system?
A
- fat in stool, greasy, bulky and frequent stool
- constipation/flatulence/bloating
- stomach pain
- liver may be enlarged
- jaundice
- vomiting blood
2
Q
how does CF affect digestive system
A
- 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
3
Q
what diet modifications are required for CF?
A
- 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
4
Q
what diet modifications are required for PKU?
A
- 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
5
Q
how does CF affect different areas of the body
A
- 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
6
Q
how does PKU affect body systems?
A
- 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
7
Q
what is phenylaline hydrolyse ?
A
the enzyme that breaks down amino acids and is later converted to tyrosine
8
Q
inheritance patterns of CF
A
- autosomal recessive manner (presence of mutations in both copies of the gene for CFTR)
- 1 in 25 australians carry allele for CF
9
Q
survival rates past and present for CF?
A
- 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
10
Q
inheritance patterns of PKU
A
- 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
11
Q
survival rates pst and present for PKU?
A
-PKU was first discovered in 1934, it doesn’t affect life expectancy but if left untreated can cause intellectual disability
12
Q
available treatments for CF?
A
- 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
13
Q
available treatments for PKU
A
limited protein diet
taking a PKU formula
14
Q
support groups for those with CF
A
- CF face-to-face counseling
- E-mentoring program links adults with CF who can provide structured guidance and support
- begins blue
15
Q
support groups for PKU
A
- metabolic dietary disorders association of australia (MDDA)
- the PKU association of NSW
