Discussion: Basic Concepts of Physiology and Factors That Influence Disease

Nephrolithiasis kidney stones

Pathophysiology is a nursing practice where nurses focus on physiological processes that cause disease.  In order to make clinical judgments, nurses study the cause of disease, signs and symptoms, investigations and diagnosis, treatment, and prognosis (Huether  & McCance, 2008). These elements help nurses to make valuable discovery by understanding the human organs and the behavior of biological processes.

It is important to note that disease can be caused by many factors, such as genetic factors. McPhee & Hammer, (2014) states that some disorders are inherited or in other words, they occur due to alteration in the DNA sequence.  Other causes of genetic disease include structure re-arrangement that leads to deletion or duplication of genes.Another important point is that genetic condition may occur due to abnormal chromosomes during cell division.  Note that cells of an individual with the genetic condition have mutated genes which were inherited through sperm cell (McPhee & Hammer, 2014).  However, some cells may develop a new mutation in the body of the affected individual. Therefore, it is important to put into consideration the genetic background for a disorder to provide effective treatment and management for the disease.

For example, Nephrolithiasis kidney stones may occur due to genetic factors. These factors may impact Nephrolithiasis in that about 75% of stones contain calcium.  About 40%-50% of adult with nephrolithiasis have primary hypercalciuria, and 20% of patients report a family history of the condition (Khan & Canales, 2009).  Note that Nephrolithisisa occur when the kidney contain crystals or hard clumps of substances. The urine becomes supersaturated, and the levels of saturated are controlled by cells functions. Therefore, a patient may have crystal deposition in the kidney due to impaired cellular function. In other words, cellular dysfunction fails to regulate the excretion of calcium, oxalate, and citrate ions, and as a result, they cause kidney stones (Khan & Canales, 2009). In addition, renal epithelial cells support the crystallization inhibition, and this means that cells dysfunction will lead to ineffective crystallization inhibitors.  An important point to note is that many patients experience recurrent stone formation. For example, hypercalciuria (excess calcium), hyperoxaluria (excess oxalate) and hypocitraturia (excess citrate) have stone recurrences due to cellular dysfunctions.

 Focusing on genetic factors, kidney stones occur due to the development of supersaturating and crystallization.  These are formed in the kidney due to cellular defect. The cellular dysfunction occurs as a result of genetic modifications. For example, Hypercalciuria or excess calcium cause stone formation in the kidney. Soluble adenylyl cyclase (sAC) enzyme has hypercalciuria phenotype or genes for nephrolithiasis. sAC is found in male germ cells and it is expressed in kidneys (Khan & Canales, 2009). It also has a calcium-sensing receptor which is expressed in the parathyroid gland.  sAC causes intrinsic cellular dysfunctions and contributes to the stone formation by increasing the supersaturating. Some individual has soluble adenylyl cyclase gene mutations which cause cellular dysfunction and suppress the production of macromolecular inhibitors (Khan & Canales, 2009). As a result, the crystals grow and blocks the renal tubules.  Note that the participating ions regulate the urinary supersaturate. The ions may be affected by various genes which affect how cells respond. Mutations of these genes result in kidney stone formation (Khan & Canales, 2009). Most patients present symptoms, such as nausea and fatigue.  Recurring stones may present symptoms such as renal damage and kidney failure.  Thus, the interaction of genes should be an issue of concern in investigating stone formation in order to identity heritable components.

References

 

Khan, S. R., & Canales, B. K. (2009). Genetic basis of renal cellular dysfunction and the

formation of kidney stones. Urological research, 37(4), 169-180.

 

 Huether, S. E., & McCance, K. L. (2008). Understanding pathophysiology. St. Louis, Mo:

Mosby/Elsevier.

 

In McPhee, S. J., & In Hammer, G. D. (2014). Pathophysiology of disease: An introduction to

clinical medicine. McGraw-Hill Education Medical,