Question

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. (Learning Objectives 1 to 3)

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

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?

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

Answer 1

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

It is the most common inherited genetic disorder causing numerous cysts in kidney. Even it begins earlier in childhood exhibit symptoms between the age of 30 and 40. Usual symptoms will be pain at the back, sides, headache etc. other symptoms includes diverticulosis, UTI, liver and pancreatic cysts, BP, kidney stones, brain aneurysms etc. The disease has no cure. But it can be treated as symptomatic management with ease and prolong life.

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?

It is an inherited autosomal dominant disease caused by mutations in PKD1 and PKD2 gene. It has a trait of autosomal dominant it means if any of the parent has the disorder, 50% chance of inheritance to their children of both gender. In PKD1 and PKD2 gene, one of its 2 copies gets altered and causing PKD. A single altered copy of gene may not cause this disorder, an additional copy of this genes mutation resulting in cyst growing faster and disease severity. Severity of disease depends on mutation of the genes. CT, MRI and ultrasound imaging techniques confirm the diagnosis along with family history.

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

Arranging for genetic counselling to evaluate carrier status and potential future screenings

Patient education on potential risk of inheritance

Patient education on potential progression of renal and hepatic disease

Adequate water intake and appropriate sodium intake

Renal diet

Adequate intake of fluids

Emotional support