Pathophysiology 2 Case Study Report: Renal Cell Carcinoma Analysis

This report presents a detailed analysis of a renal cell carcinoma (RCC) case study involving a 58-year-old patient named Mark. The analysis begins with the patient's clinical presentation, including elevated red and white blood cell counts, abnormal renal mass and lymphadenopathy, a palpable mass in the left flank, and signs of tissue invasion on a CT scan. Based on these findings, the report suggests a diagnosis of RCC, emphasizing the roles of smoking, obesity, and prior infections as potential risk factors. The pathophysiology section explores the genetic and immune-related processes involved, focusing on the pVHL and PBRM-1 genes and their impact on cellular function and tumor development. The report also discusses the clinical features of RCC, such as flank pain and flank mass, and provides statistical data on RCC incidence and mortality. Finally, it highlights preventive measures, including lifestyle modifications and awareness of family history. The report concludes with a list of relevant references.

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Pathophysiology

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Pathophysiology
In reference to the case study of Mark, who is 58 years old, a nurse can use various
differential diagnoses to determine what Mark might be suffering from. One of the key
differential diagnoses that can be considered in determining the final diagnosis used in the
physical examination is the cell blood count which indicates the Mark had elevated red blood
cells and white blood cells. According to the case, the results indicate that Mark had abnormal
white blood cells and too many numerous red blood cells. Another crucial diagnosis is an
abdominal ultrasound test which indicates abnormal renal mass and lymphadenopathy. Also, the
physical examination shows that Mark’s abdomen is soft with a tender and palpable mass can be
seen in the left flack region. Furthermore, the CT scan indicates on the left kidney indicates the
signs of invasion into the surrounding tissue (Lam et al., 2015). According to these differential
diagnoses, one can suggest that Mark is suffering from renal cell carcinoma, which can be as a
result of the renal tubular epithelium (Pirson, 2015).
Some of the risk factors for RCC include smoking or acquired cystic disease of the kidney
(Schlageter et al., 2014). This can be supported as in the case Mark was a reformed heavy
smoker and had a history of post-infection glomerulonephritis. Another risk factor that might
have exposed Mark to renal cell carcinoma disease is his obesity which as he has a BMI of 28
when calculated. These scenarios might be the main causes of Mark’s RCC.
The pathophysiology of RCC involves genetic and immune related process. The two genes
that is involved in pathophysiology of RCC include protein polybromo-1 gene and Von Hippel –
Lindau gene (Pirson, 2015). The alteration of pVHL gene inhibits hydroxylation of HIFA–HIFB
complex which moves to the nucleus to act as a transcription factor leading into increased levels
of mRNA levels coding for extracellular matrix proteins, VEGF, PDGFB, TGFA, erythropoietin

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thus causing RCC to occur (Chapman et al., 2015). On the other hand mutation of tumor
suppressor gene PBRM-1 introduces cell arrest thus causing abnormal functioning of BAF180.
This leads to unchecked cell growth resulting into RCC (Znaor, et al., 2015).
In regards to the case, one of the clinical features of renal cell carcinoma is flank pain which
includes one of the signs that Mark had when being admitted. The triad of flank pain and flank
mass is indicative that the renal cell carcinoma is in the advanced stage, thus the need for
treatment (Pirson, 2015). Furthermore, the CT scan indicated signs of invasion into the
surrounding tissue, increased red blood cell count and soft abdomen with a tender,
lymphadenopathy and palpable mass which significantly indicates that Mark is suffering from
RCC and might be in the advanced stage (Hsieh et al., 2017).
The incidence of RCC varies in different nations. According to the (Znaor, et al., 2015), the
estimated number of cases of RCC in Australia is 3814, where 2539 are males and 1275 females.
Out of these reported cases, about 1500 patients have died as a result of the condition in the year
2019 alone. The recent study has indicated that Australian have a 1 in 69 risks of developing
RCC (Znaor, et al., 2015). Most of these who are at risk include adults of over 55 years. This
prevalence indicates that there is a need for awareness about the disease and how it is caused and
how it can be prevented. The condition can be as a result of genetic inheritance and
environmental exposure. Besides, if someone in the family history has had RCC, there is an
increased chance of risk of suffering from the condition. The condition can be prevented by
avoiding the risk factors that are associated with it. Eating a good diet, practicing exercise,
avoiding smoking, and regulating blood pressure can play a part in preventing RCC (Chapman et
al., 2015).

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References
Chapman, A. B., Devuyst, O., Eckardt, K. U., Gansevoort, R. T., Harris, T., Horie, S., ... &
Pirson, Y. (2015). Autosomal-dominant polycystic kidney disease (ADPKD): executive
summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies
Conference. Kidney international, 88(1), 17-27.
Chawla, L.S., Eggers, P.W., Star, R.A. and Kimmel, P.L., 2014. Acute kidney injury and chronic
kidney disease as interconnected syndromes. New England Journal of Medicine, 371(1), pp.58-
66.
Hsieh, J.J., Purdue, M.P., Signoretti, S., Swanton, C., Albiges, L., Schmidinger, M., Heng, D.Y.,
Larkin, J. and Ficarra, V., 2017. Renal cell carcinoma. Nature reviews Disease primers, 3,
p.17009.
Lam, T., Marconi, L., Merseburger, A.S. and Mulders, P., 2015. EAU guidelines on renal cell
carcinoma: 2014 update. European urology, 67(5), pp.913-924.
Znaor, A., Lortet-Tieulent, J., Laversanne, M., Jemal, A. and Bray, F., 2015. International
variations and trends in renal cell carcinoma incidence and mortality. European urology, 67(3),
pp.519-530.