Pathophysioly Response #2

Respond to your colleagues and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not

At least 2 references in each peer responses!

Cystic Fibrosis is an autosomal recessive disease that affects chromosome 7 on the DNA helix.  The parents of the child with cystic fibrosis are both carriers of the disorder and likely have no symptoms and have no idea they are carriers.  The disease is caused by a mutation in cystic fibrosis transmembrane regulator (CFTR).  The CFTR regulates the flow of salt and fluids in and out of the cell.  The CFTR protein provides instructions for the channel than transports negatively charged particles called chloride ions in and out of the cell and across the tissues.  The lack of this channel causes the build-up of thick and sticky mucus because chloride helps with the movement of water across the tissues that assist with thinning the mucus. (CF Genetics: The Basics, 2020)

The organs that are affected most frequently are the lungs, digestive organs, pancreas, and reproductive organs.  The thick mucus causes frequent lung infections and the cyst in the lungs.  The thick mucus blocks the ducts of the pancreas and prevents the transport of digestive enzymes leading to malnutrition.  The production of insulin is also affected by the thick mucus and cystic fibrosis patients can develop diabetes-related to this.  Males with cystic fibrosis are infertile due to mucus plugging the vas deferens.  Female with cystic fibrosis frequently have difficulty during pregnancy (Cystic Fibrosis, 2020). 

Cystic fibrosis is a recessive disease and both parents must be carries to produce a child who has cystic fibrosis.  The chances of two carriers having a child with cystic fibrosis are 25% and the chances that the child will have a 50% chance they are a carrier of the mutation and a 25% chance that the child will not be a carrier or have the disease.   The person with cystic fibrosis has a child with a cystic fibrosis carrier then they have a 50% chance the child will have cystic fibrosis and a 50% chance they will be a carrier (Cystic Fibrosis, n.d.). 

Cystic fibrosis is common in the Caucasian population with a frequency rate of 1 in 2500-3500 births.  African American have a frequency rate of 1-17000 and Asian population have a frequency rate of 1-3100 births (CF Genetics: The Basics, 2020)