Woe to That Child
A Case of Cystic Fibrosis
St. Louis College of Pharmacy
Alvin’s parents are worried about him. He has had a cough for almost a week, and he’s wheezing a lot more than they think is normal for a child with a cold, which is what their family pediatrician says he has. When they take him to the ER, however, the pediatric pulmonologist on duty tells them their son is suffering from something much more serious than a cold. This case study was developed for second-year pharmacy students to help them tie together elements of cell physiology, osmosis and tonicity, and membrane transport processes. The questions, which focus on disease mechanisms, symptoms, and treatment options, could be modified for non-pharmacy students.
- Describe basic mechanisms of genetic inheritance, specifically the difference between a recessive and a dominant trait.
- Describe the mechanism for protein synthesis including transcription, translation, and modification within the Golgi apparatus.
- Describe how alterations in membrane transport may affect the tonicity of the extracellular fluid (ECF).
- Explain in detail the mechanism whereby altering ECF solute concentrations can alter the water composition of the ECF.
KeywordsCystic fibrosis; genetic disease; autosomal recessive disease; cystic fibrosis transmembrane conductance regulator; CFTR channels; extracellular fluid; membrane transport; osmosis; tonicity; Golgi; genetic inheritance; gene therapy
Educational LevelUndergraduate upper division, Graduate, Professional (degree program), Clinical education
Subject HeadingsPhysiology | Cell Biology | Biology (General) | Medicine (General) |