A patient who is 38 years of age is diagnosed with autosomal dominant polycystic kidney disease

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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. (Learning Objectives 1 to 3, and 5) (ISA)

a. When explaining to the patient and family about polycystic kidney disease, the nurse should explain what characteristics about an autosomal dominant genetic disease?

b. 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?

c. Identify the roles of the nurse in integrating genetics in the nursing care provided for the patient.

Sample Solution

Autosomal Dominant Polycystic Kidney Disease: A Nurse’s Perspective

  1. Explaining Autosomal Dominant Inheritance

The nurse should explain the following characteristics of autosomal dominant genetic diseases to the patient and family:

  • One Copy Needed: Only one copy of the abnormal gene, inherited from either parent, is sufficient to cause the disease.
  • High Chance of Inheritance: Each child of an affected parent has a 50% chance of inheriting the abnormal gene and developing the disease.
  • Generational Pattern: The disease can affect multiple generations in a family. Not everyone in a family with the gene will develop symptoms, but there’s a chance in every generation.
  1. Variable Expression and Predicting Disease Course

Variable Expression:

  • Polycystic kidney disease (PKD) exhibits variable expression, meaning the severity and symptoms can vary greatly among individuals with the same genetic mutation.
  • Some patients may experience no symptoms until later in life, while others may develop complications earlier.

Nurse’s Role in Predicting Disease Course:

The nurse cannot definitively predict the disease course. However, they can:

  • Gather a detailed family history to understand the presence and severity of PKD in relatives.
  • Monitor the patient’s blood pressure and kidney function regularly to identify potential complications early.
  • Educate the patient on signs and symptoms to watch for, such as blood in the urine, flank pain, or feeling unusually full due to fluid retention.
  1. Nurse’s Role in Integrating Genetics into Care

The nurse plays a crucial role in integrating genetics into patient care for PKD by:

  • Providing Genetic Education: Educating the patient and family about PKD, its inheritance pattern, and potential complications.
  • Psychosocial Support: Offering support and addressing any anxieties related to the genetic nature of the disease and its potential impact on future generations.
  • Facilitating Genetic Testing: Discussing the option of genetic testing for at-risk family members and guiding them through the process.
  • Adherence to Treatment Plans: Encouraging adherence to medications and lifestyle modifications to manage symptoms and slow disease progression.
  • Collaboration with Other Providers: Collaborating with nephrologists, geneticists, and other healthcare professionals to ensure comprehensive care.

By understanding the genetic basis of PKD and its variable expression, the nurse can empower patients and families to make informed decisions about their healthcare and navigate the complexities of this chronic condition.

 

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