HRR: molecular mechanisms of pulmonary disease Flashcards
What is the inheritance pattern of CF?
Autosomal recessive
Briefly describe CF.
A multisystem disease that results in a buildup of mucus in the lungs, pancreas, and other organs.
Describe CF’s impact in the pancreas.
The mucus prevents digestive enzyme release, causing an inability to break down food and absorb nutrients.
Describe CF’s impact in the lungs.
Thick mucus clogs the airways and keeps bacteria trapped.
What secondary conditions can CF put you at risk for?
Liver disease, osteoporosis, male infertility, pancreatitis, bowel obstruction.
Who should be offered carrier screenings?
All pregnant people or people planning a pregnancy.
What is CFTR?
A chloride channel that establishes a driving force for sodium transport, and water as a result.
What is CFTR’s significance in CF?
CF occurs when CFTR is absent or abnormal, resulting in abnormal ion transport that leads to a less watery, thick mucus.
What is the most dangerous CFTR mutation?
Class I, which results in no synthesis of CFTR.
What is the most common CFTR mutation?
Class II, which results in abnormal production of CFTR. This causes the cell to not recognize the protein and not express it on the cell surface.
What is involved in the daily care of CF?
Airway clearance, nutrition, and infection control.
What can be used for airway clearance in CF?
Percussion to loosen mucus, bronchodilators to dilate airways, inhaled antibiotics.
What medication can be used for CF? How does it work?
Ivacaftor; it allows defective CFTR channels to open and let chloride ions pass.
Who should get genetic testing for CF?
Parents of a CF child who want another child, someone with CF having a family, siblings of CF, partners of known carriers.
What are the main organs impacted by A1AT deficiency?
Lungs and liver.
