The Role of Variable Expression Genetic Characteristics in the Course of Polycystic Kidney Disease

 

Variable expression of a genetic attribute is the variability in how a gene is expressed in distinct individuals, even if they carry the same gene mutation. In cases of autosomal dominant polycystic kidney disease, the variance in the gene expression can play a meaningful role in the course of the disorder (Chebib & Torres, 2021). This can be seen when some individuals may have a more serious disorder with higher and more innumerable cysts in their kidneys, with others having a lenient form with equal and fewer cysts. Additionally, the variability in gene expression, environmental factors and lifestyle alternatives can also influence the course of the disorder. It is evident in individuals smoking or having uncontrolled hypertension encountering a more rapid disease development. A nurse can assist in predicting the level of the disorder by observing the patient’s symptoms and ushering in regular evaluation of their kidney function (Gounden et al., 2018). The nurse can also educate the patient on the necessity of maintaining a healthy lifestyle and sticking to a low-sodium diet to manage high blood pressure and minimize fluid retention. In addition, the nurse can work with the patient’s healthcare team to come up with a personalized treatment plan addressing the patient’s particular symptoms and complications. The nurse can assist in enhancing the quality of life and possibly slow the disorder’s progression by offering close monitoring to the patient and supportive care.

The Roles of the Nurse in Integrating Genetics in the Nursing Care Provided for the Patient

The nurse plays a critical role in integrating genetics into the nursing care offered for a patient diagnosed with an autosomal dominant polycystic kidney disorder. The nurse must have a meticulous comprehension of the patient’s family history, as it can assist in identifying any other family members at risk of inheriting the disorder. The nurse must also be informed about the disorder, its possible complications, and ways of managing them. It includes educating the patient on ways of modifying lifestyle, like changes in the diet, management of medications, and blood pressure observation (Goda et al., 2019). The nurse is also responsible to observe the patient for any symptoms of complications like bleeding and infection and punctually report any changes to the healthcare team. In addition, the nurse must motivate the patient to look for genetic counseling and testing to comprehend better their risk and assist them in informed decision-making about their healthcare. Comprehensively, the nurse’s role in integrating genetics into nursing care entails evaluation, education, advocacy, and monitoring, aiming to enhance the patient’s quality of life and minimize complications.

Conclusion

Genetics and genomics play a critical role in nursing care, especially in managing hereditary disorders like autosomal dominant polycystic kidney disease. Comprehending the characteristics of autosomal dominant genetic disorders is essential in elucidating the disease to patients and their families. The variable expression of genetic characteristics influences the course of the disorder, making it hard to predict the level of extremity. However, genetic testing can assist in discovering the risk of passing on the disorder to future generations, and as part of the nursing care team, the nurse can play a critical role in integrating genetics into patient care by evaluating family history, educating patients and families, and partnering with other healthcare professionals to offer comprehensive care. Nurses can enhance patient outcomes and offer more personalized and targeted care by pertaining a genetics and genomics lens to nursing care.

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