Case Study, Chapter 8, Overview of Genetics and Genomics in Nursing 1. A patient

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 (rregular heart rhythms), or diverticula (outpouching of the bowel) that are susceptible to infection and inflammation and may lead to gastrointestinal bleeding. The patient is suscepti retaining fluid in the abdomen so the abdomen is large to constipation, and to hypertension. There i cure for the disease. The patie patient may have. (Learning Objectives 1 to 3) ble to s no nt receives supportive care for the various symptoms or complications the 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? Identify the roles of the nurse in integrating genetics in the nursing care provided for the patient.

Explanation / Answer

1. a. Genetic disorders are due to abnormal genes in individuals . Mostly these are carried from parents to child. Genetic disorder is caused by mutation of a gene in a section , alteration or absence of a whole chromosome in strand of a DNA.Autosomes are 22sets of chromosomes found in human cells. Genetic disorders are autosomal recessive or dominant and characteristics of diseases vary accordingly. If abnormal or mutated gene is present in any one of the parent and it is passed down to the offspring causing a genetic disease , it is termed as autosomal dominant genetic disorder.The parent who carries the dominant gene in their somatic cells can pass it to the child who may not get affected at present but can pass to next generation also. There are nearly more than 2000 inherited traits.

Polycystic kidney disease is inherited disorder leading to abnormal expansion of kidneys resulting in renal insufficiency and kidney failure.

b.The severity of the disease vary among individuals having same type of mutated gene ,it is said as variable expressivity. Autosomal dominant polycystic kidney disease usually develop symptoms between 30-40 years . Fluid filled cysts occupy the kidney. This can also begin in childhood too.An ultrasound , CT, MRI can be used to diagnose the polycystic kidney disease.If the disease is found out earlier treatment can be initiated before leading to kidney failure by controling hypertension and restrict protein in diet. Tolvaptan is the drug used in treating PKD.

c.The nurse must know about the causes and predisposing factors of autosomal dominant polycystic kidney disease.She should understand the link between genetics and DNA to health and also about prevention, screening and treatment of genetic disorders. Nurses should engage in collection of family history to find any link to genetic diseases and guide them for genetic counselling and further treatment .Educate the family about hazards of consanguinous marriages and always the need of genetic counselling before marriage.Documentation of patients records in EHR can help to save future generations of patient . Preventive measures can be carried out with the help of nurse .

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