What were the main findings of Mr. Penzey’s physical exam? How could his CT results be related to his blood pressure findings?
The physical examination of the patient indicated that there were gallop sound which is abnormal when a stethoscope is used to listen to his heart beats. The gallop sound indicated that there may be issues with the heartbeat which elevated and stopped abnormally as heartbeats after elevation and slow in constant rate. The high blood pressure indicate a rate which is associated with extensive hypertension. The BP which is 170/90 is too high compared to the normal rates hence the need to use the CT to determine whether the heart was the only defective organ or there were more defective organs. The blood circulation although pumped by the heart relies on the circulatory vascular system that can be influenced by other organs for instance, the brain and kidneys. The CT scan helped identify a mass on the right adrenal gland in the patient. The mass inhibited the flow of blood due to the enzymes and hormones present in the renin-angiotensin-aldosterone system that is responsible for either increasing or decreasing blood pressure.
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Define the renin-angiotensin-aldosterone system (RAAS).
The RAAS is the most essential system in the body responsible for regulating systemic vascular resistance and blood volume. The two roles influence cardiac output and arterial pressure. The system is formed by three main components; renin, angiotensin and aldosterone. The kidneys produce renin which stimulates the formation of angiotensin in the blood. The angiotensin formed stimulates the release of aldosterone from the adrenal cortex. The renal artery hypotension, sympathetic nerve activation and decline in sodium delivery in the distal tubules of the kidney stimulate the release of renin from the juxtaglomerular cells. The renin release is also dependent on the afferent arteriole pressure with increment and decrement in pressure resulting in inhibition and facilitation of renin respectively. In the event of reduced NaCI, renin is released into the blood which then continues the other processes as earlier indicated (Klabunde, 2016). The high blood pressure evident in the patient’s BP inhibited the renin release due to the elevated blood pressure.
What did the laboratory results suggest about his overall kidney function? Are there additional tests that could help you arrive at a diagnosis for Mr. Penzey’s condition?
The laboratory results of Mr. Penzey indicated that there sodium was released more in the blood, whereas potassium and renin were lower than normal. The serum pH was normal but the aldosterone was much higher leading to need to determine the main cause of all the abnormalities. The kidneys were not operating normally as the renin was inhibited hence the lower rate of its release that is evident in such a high blood pressure. As earlier indicated, high blood pressure in the arterioles inhibit release of renin and affects regulation of blood pressure, re-absorption of the minerals, and other nutrients. The inhibited renin result in the failure of control of stimulating other enzymes and hormones which may be factored in by the potassium lower release, and the elevated sodium into the blood (Accad, 2014). The lab results alone are not efficient to diagnose the ailment hence the use of CT and ECG as most diseases have similar lab results but which would lead to medicating the wrong ailment. The lab results are beneficial in setting the scale of the other needed tests.
How did the EKG and blood pressure results indicate damage was occurring to Mr. Penzey’s circulatory system?
The elevated BP and EKG abnormal waveform indicate that there is damage occurring to Mr. Penzey’s circulatory system. The BP is higher than normal which was previously discussed but with the help of EKG, the gallop sounds are depicted by the waveform that is different from the PQST waveform. The first waveform is below the normal rate as it is downward slopping and also very sharp which is unlike a normal QRS wave form. It then stagnate but elevate before reaching the Q to R which is shorter than the height of R in other waveforms. From R there is short stagnation to the other R without undergoing PQS before it normalizes (Accad, 2014). The EKG is important in determining historical and current heartbeats through different parts of the body thus the abnormal waveform pattern that has no definite rhythm demonstrate that there are problems in the circulatory system of the patient.
What did the genetic results suggest about Mr. Penzey’s condition? The mutation on the agarose gel showed the presence of a chimeric 11-β-hydroxylase gene which caused an overproduction of the enzyme aldosterone synthase. How is this enzyme involved in the function of ACTH, aldosterone and cortisol? How do these hormones affect the homeostasis of blood pressure?
The generic results suggests that CYP11B1 gene fuses a section of the gene known as promoter region, that is responsible for production of the 11-beta-hydroxylase enzyme, to the section of the CYP11B2 gene which stimulates production of aldosterone synthase. The bidding of CYP11B1 gene’s promoter region leads to the ACTH to trigger production of the 11-beta-hydroxylase enzyme (El Ghorayeb, Bourdeau, & Lacroix, 2016). The fusion results to the ACTH binding abnormally triggers production of aldosterone synthase which lead to excessive production of aldosterone. The ACTH binding may limit production of aldosterone in the short-run but with the high blood pressure resulting from the abnormal fusion, there is inhibited renin release in the kidneys (U.S. National Library of Medicine, 2017). The lower rate of renin production fails to trigger production of angiotensin 11 which should bind with the excessive aldosterone leading to the abnormality. The excessive aldosterone influence retention of sodium and fluids hence the higher rate of sodium as evident in the lab results. The excessive aldosterone affects the homeostasis of blood pressure as it inhibit other enzymes and hormones being produced thus leading to the high blood pressure (U.S. National Library of Medicine, 2017).
What do you think his condition might be?
There are several disorders that may have similar symptoms but due to the family depicting similar genes and the high BP, Mr. Penzey is most likely suffering from familial hyperaldosteronism which in the long-run result in hypertension.
References
Accad, D (2014, December 17). Demystifying the ECG . Athletic Heart. Retrieved 31 July 2017, from, http://athleticheartsf.com/demystifying-the-ecg/
U.S. National Library of Medicine. (2017, July 25). CYP11B1 gene. Genetics Home Reference . Retrieved 31 July 2017, from, https://ghr.nlm.nih.gov/gene/CYP11B1#normalfunction
El Ghorayeb, N., Bourdeau, I., & Lacroix, A. (2016). Role of ACTH and Other Hormones in the Regulation of Aldosterone Production in Primary Aldosteronism. Frontiers in Endocrinology , 7 , 72. http://doi.org/10.3389/fendo.2016.00072
Klabunde, R. (2016, August 12). Renin-Angiotensin-Aldosterone System. Cardiovascular Physiology concepts . Retrieved 31 July 2017, from, http://www.cvphysiology.com/Blood%20Pressure/BP015
