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A patient who is 38 years of age is diagnosed with autosomal dominant polycystic kidney disease, a hereditary disease that results in fluid-filled cysts occupying space in the kidneys.

Case Study, Chapter 8, Overview of Genetics and Genomics in Nursing

1. A patient who is 38 years of age is diagnosed with autosomal dominant polycystic kidney disease, a hereditary disease that results in fluid-filled cysts occupying space in the kidneys. The cysts can interfere with the function of the kidney and may burst and cause bleeding inside the kidney. The patient with polycystic kidney disease may or may not have a berry aneurysm of a blood vessel in the brain that could lead to bleeding and death, cysts on the ovaries, and a mitral valve prolapse (in females) that can lead to dysrhythmias (irregular heart rhythms), or diverticula (outpouching of the bowel) that are susceptible to infection and inflammation and may lead to gastrointestinal bleeding. The patient is susceptible to retaining fluid in the abdomen so the abdomen is large to constipation, and to hypertension. There is no cure for the disease. The patient receives supportive care for the various symptoms or complications the patient may have.

  1. When explaining to the patient and family about polycystic kidney disease, the nurse should explain what characteristics about an autosomal dominant genetic disease?
  2. How does variable expression of genetic characteristics play a role in the course of polycystic kidney disease and how can the nurse further predict the level of the disease?
  3. Identify the roles of the nurse in integrating genetics in the nursing care provided for the patient.

2. Mr. Wayne is a 38-year-old man with a significant family history of elevated cholesterol levels. His father died at age 42 from a massive heart attack secondary to elevated cholesterol and triglycerides, and two of his older siblings are currently taking medications to lower their cholesterol levels. Mr. Wayne makes an appointment to discuss his risk for hypercholesterolemia. The nurse recognizes that Mr. Wayne is at risk for familial hypercholesterolemia because this is an autosomal dominant inherited condition.

  1. Describe the pattern of autosomal dominant inheritance.
  2. Mr. Wayne asks what chance his children have of developing familial hypercholesterolemia. How should the nurse respond?
  3. Explain the phenomenon of penetrance observed in autosomal dominant inheritance.

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