Abnormality on her universal newborn screening lab test

A 2-week-old has an abnormality on her universal newborn screening lab test that indicates she may have cystic fibrosis. She is currently doing well. Her parents report that in the hospital she did not pass her first bowel movement until the 3rdday of life and that the staff was concerned about that. Her parents have noted that she “tastes salty” when they kiss her.
Appears healthy with good growth.
Sweat chloride and genetic testing for cystic fibrosis ordered.
Assessment: Cystic fibrosis
Answer the following questions based on the scenario and article above and save your responses in a Microsoft Word document. Provide a scholarly resource in APA format to support your answers.

  1. Define genotype.
  2. Define phenotype.
  3. What gene mutation is associated with cystic fibrosis? How does this affect mucus production?
  4. How is cystic fibrosis inherited?
  5. Describe 3 problems that a patient with cystic fibrosis may have-choose 1 problem from 3 different body systems.

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Sample Answer



Genotype: The genotype is the genetic makeup of an individual. In the case of cystic fibrosis, the genotype is a mutation in the CFTR gene.

Phenotype: The phenotype is the physical expression of the genotype. In the case of cystic fibrosis, the phenotype can vary from mild to severe. Some people with cystic fibrosis may have few symptoms, while others may have more severe symptoms, such as difficulty breathing, frequent lung infections, and problems with digestion.

Full Answer Section




Gene mutation associated with cystic fibrosis: The gene mutation associated with cystic fibrosis is a mutation in the CFTR gene. The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR is a chloride channel that helps control the movement of chloride ions across cell membranes. In people with cystic fibrosis, the CFTR protein is defective and does not function properly. This leads to thick, sticky mucus that can build up in the lungs, pancreas, and other organs.

How does this affect mucus production? The defective CFTR protein causes the mucus in the lungs and other organs to become thick and sticky. This can make it difficult to breathe and can also lead to infections. The mucus can also block the ducts of the pancreas, which can lead to problems with digestion.

How is cystic fibrosis inherited? Cystic fibrosis is an autosomal recessive genetic disorder. This means that both parents must have a copy of the mutated gene in order for their child to have cystic fibrosis. If one parent has the mutated gene and the other parent does not, the child will be a carrier of the gene but will not have cystic fibrosis.

The sweat chloride test is a screening test for cystic fibrosis. It measures the amount of chloride in the sweat. People with cystic fibrosis have high levels of chloride in their sweat. The genetic testing for cystic fibrosis can confirm the diagnosis.

The child in the question is currently doing well, but she will need to be monitored closely for signs of cystic fibrosis. She will need to have regular checkups with her doctor and she may need to take medication to help control her symptoms. She may also need to have surgery to remove mucus from her lungs.

Cystic fibrosis is a serious condition, but with early diagnosis and treatment, people with cystic fibrosis can live long and productive lives.

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