Term
| Trend in Survival of Age of CF |
|
Definition
| Is steady increasing but still many die from it fiarly early |
|
|
Term
CF Gene
- Which chromsome
- Product
- Mutation name and what happens? |
|
Definition
| CF gene is found on chromosome 7 and produces CFTR, most common mutation is delta F508 where 3 nucleotides are removed; which causes a loss of phenylalanine in the 508 position |
|
|
Term
|
Definition
| Cystic Fibrosis Transmembrane Conductance Regulator is a chloride ion channel and modulator of other ion transport |
|
|
Term
|
Definition
| Defective protein production iwth premature termination of CTFR production. Class 1 mutations produce few or no functioning CFTR chloride channels. |
|
|
Term
|
Definition
| Defective trafficking of CFTR so that it does not reach the apical surface membrane where it is intended to function |
|
|
Term
|
Definition
| Defective regulation of CFTR even though it reaches apical surface |
|
|
Term
|
Definition
| CFTR reaches the apical surface but conduction thru channel is defective |
|
|
Term
|
Definition
| Associated with reduced synthesis |
|
|
Term
| Model of Disease Analysis (8 steps) |
|
Definition
| Gene, Protein, Cell, Tissue, Individual, Family/Community, CF population/epidem, HC system/Society |
|
|
Term
|
Definition
- CFTR removes Cl- from the cell into the PCL allowing water to follow and keep the cillia functioning.
- Also contributes bicarb, other ions, anti microbial.
- inhibits ENaC and balances basolateral Na/K |
|
|
Term
|
Definition
| which pumps Na in and causes to water to flow out of the PCL into the cell, dehydrating the PCL |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Progressive pulmonary disease |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Congenital absence of vas (male infertility) |
|
|
Term
|
Definition
|
|
Term
|
Definition
| asymptomatic heterozygote |
|
|
Term
|
Definition
- Polyps
- Mucous
- Infections |
|
|
Term
|
Definition
- Lung failure is leading cause of death
- Bronchiectasis where airway lumen is obstructed by mucus, edema, muscular bronchospasm - can lead to hemoptysis and pneumothorax/lung collpase
- Affected by poor nutritional absorption of vitamins, grow age 9-10
- Cor pulmonale; end stage resp disease |
|
|
Term
|
Definition
|
|
Term
|
Definition
| - Failure to deliver enzymes; poor metabolism - Malabs of fat and fat soluble vitamins KADE; poor grwoth/osteoporosis/bleeding - Steatorhea - Bloating, gas, pain in abdomen - Pancreatitis - Diabetes from damage to pancreas |
|
|
Term
|
Definition
| Cirrohsis, 3rd leading cause of death |
|
|
Term
|
Definition
| - Meconium; dehydrated stool in babies recurs for adults |
|
|
Term
|
Definition
| - Failure due to the treatments |
|
|
Term
|
Definition
|
|
Term
|
Definition
- Prenatal screening (NYS newborn screening program with IRT screen)
- Meconium ileus
- Poor nutrition, growth and fatty poop (steatorrhea)
- Asthma- hard to control
- Frequent pneumonias
- Male infertility |
|
|
Term
|
Definition
| GERD, Cirrhosis, Gall stones, Rectal prolapse, Distal intestinal obstruction syndrome |
|
|
Term
|
Definition
| Non-profit focused on research funding |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Team; Dr, Nurse, Tech, Social worker, Pharmacist |
|
|
Term
|
Definition
Force exited/volume in 1 second; higher FEV means better life outcome/physical output
- Better care has resulted in better FEV than in the past but still a progressive disease |
|
|
Term
|
Definition
| Baceteria in lungs causes most infections |
|
|
Term
|
Definition
| - Very rare agressive bacteria, soil |
|
|
Term
|
Definition
- Diabetes and Bone disease (vit D)
- Depression (same as other chronic diseases) |
|
|
Term
|
Definition
- higher risk of stillbirth and pre-me
- 1/40 chance of successful birth
- Treatment of mother may damage fetus |
|
|
