James Porter has been suffering from polycystic kidney (PKD) disease since childhood when he was seven years. Polycystic kidney is one among a number of kidney diseases that manifest in the form of fluid-filled cysts in the patient's kidneys. Being genetic in nature, Porter's parents' realised that the risk of Porter genetically acquiring the disease existed. This was after a detailed genetically oriented test confirmed it. He was lucky that the disease did not manifest at birth. If that had been the case his survival chances past his second birthday would have been very slim. Now at 20 years old, Porter, who is an only child of the family, still battles the disease. He has a cousin who is also living with polycystic kidney disease.
James Porters Personal and Medical History
Porter has autosomal dominant PKD linked to the presence of the gene PKD2. It all started with Porter complaining of fatigue and headaches. However, it was after he got a urinary tract infection and increased the frequency of his toilet visits that the possibility of an onset of PKD was hinted by his parents. An ultrasound confirmed his parents' fears after the results showed the presence of cysts on his kidney. Abdominal pain has been a constant bother of his life although he is free of symptoms around 80% of the time. However, sometimes the symptoms escalate or dangerous scenarios occur. For example, Porter has had to undergo two transfusions as a result of cyst haemorrhage that occurred for the last time last year mid-August. To control the ever present risk of flank pain, Porter has had to live a life that controlled and restricted activities. Activities such as contact games that are considered risky are some of the things he has to live without. Cycling and swimming are considered low risk and he is encouraged to engage in them. He is also encouraged to regularly drink a lot of water.
Drug Therapy
Currently, it has become a common occurrence for Porter to be put on antibiotics and pain killers for abdominal pains and urinary tract infections respectively. At this stage, Porters drug therapy targets the deceleration and prevention of loss of kidney function. Although kidney failure is inevitable, he can still reach the age of eighty without the onset of ESRD. Since hypertension is dangerous to a person with PKD because it accelerates the progress of kidney deterioration, Porter is under medication that suppresses the increase in blood pressure. For control of cyst spread, he is currently on prescribed Chloramphenicol use. If and when he gets to the stage of ESRD, open options will be dialysis and kidney transplant.
Treatment
PKD is life-threatening and incurable. Only related effects such as pain and urinary tract infections can be treated. Progression of the disease warrants the use of surgery to remove the cysts. However, health care professionals use a number of ways to reduce the severity of its effects. If not taken care of, the cysts overgrow and lead to kidney failure and other dangerous complications. Recently Porter's doctor suggested the option of using surgery to perform cyst decompression. His parents having had the previous experience of living close to a person with disease supported the idea, but they know that it will not lower the risk of renal failure. Even though the procedure is intrusive Porter will get at least an eighty percent chance of being pain-free for the next twelve months. Porter's parents also support the option of a kidney transplant as opposed to dialysis should Porters condition progress to a point where they have to pick either of the two. The reason for that is because in the long run dialysis is more expensive.
Follow-Up Care
Due to the risk of hypertension Porter is currently on a special diet formulated by a dietician to reduce the chances of an increase in blood pressure. The diet is specifically formulated to have the least amount of sodium and to have moderate calorie amounts to reduce the chances of becoming overweight. An increase in blood pressure would lead to deformities in Porter's kidneys. The health care practitioner at Porter's school is aware of his condition and is always on standby for any emergencies and routine check-ups of his vital signs. The school's health practitioner is aware that any infection may progress rapidly and because of that, she treats any strange disease symptom with utmost urgency and thorough. Porter goes for frequent ultrasounds to check the progression of cysts and especially to check whether they have progressed to his pancreas and liver. The ultrasounds also check for the emergence of any risks on his heart valves. For the detection of urine tract infections, he undergoes frequent urinalysis tests. As a free benefit from the hospital, Porter attends about two counselling sessions a month. As an important precautionary move, Porter has regularly scheduled appointments with a nephrologist. It is also important to note that the nephrologist works together with a nurse that has received advance training in nephrology. The nurse plays the roles of case manager and clinician to Porter.
References
Adams, D., De Jonge, R., Van der Cammen, T., Zietse, R., & Hoorn, E. J. (2011). Acute kidney injury in patients presenting with hyponatremia. JN, 24(6), 749-755. doi:10.5301/jn.2011.6410
Arnaout, M. A. (2001). Molecular Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease. Annual Review of Medicine, 52(1), 93-123. doi:10.1146/annurev.med.52.1.93
Assadi, F. (2010). Hypomagnesemia: An evidence-based approach to clinical cases. Iranian Journal of Kidney Diseases, 4(1), 13-19.
Autosomal Dominant Polycystic Kidney Disease (PKD) Evaluated for Renal Transplantation. A Single Center Experience. (2013). American Journal of Kidney Diseases, 61(4), B66. doi:10.1053/j.ajkd.2013.02.206
Benzing, T. (2014). Polycystic kidney disease: Halting PKD progressionrevival of blood pressure control. Nat Rev Nephrol, 11(3), 129-131. doi:10.1038/nrneph.2014.241
Buttaro, T. M. (2013). Primary care: A collaborative practice (4th ed.). St. Louis, MO: Elsevier/Mosby.
Ecder, T., Edelstein, C. L., Fick-Brosnahan, G. M., Johnson, A. M., Chapman, A. B., Gabow, P. A., & Schrier, R. W. (2001). Diuretics versus Angiotensin-Converting Enzyme Inhibitors in Autosomal Dominant Polycystic Kidney Disease. American Journal of Nephrology, 21(2), 98-103. doi:10.1159/000046231
Frost, J. (2002). Polycystic Kidney Disease: Diagnosis and Treatment (Master's thesis). Retrieved from https://research.libraries.wsu.edu:8443/xmlui/bitstream/handle/2376/3809/J_Frost_010508144.pdf;s
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