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Polycystic Kidney Diseases (PKD) refers to an inherited disease of, but not limited to the kidney. It leads to the development of sacs which contain some fluids, otherwise called cysts, in the kidney. These sacs cause considerable pain to the patient or just get infected altogether. As these cysts continue to grow, they end up damaging the kidney by inhibiting the ability of the organ to perform its functions like the ability to filter waste materials from the blood. This means the toxic substances available in the blood are allowed to continue circulating in the system, with all the potential effects notwithstanding. These effects may include a condition referred to as ‘Uremic poisoning’ (Cooper, 1997). Continued growth of these sacs may eventually lead to total kidney failure (http://familydoctor.org/online/famdocen/home/common/kidney/142.html# ArticleParsysMiddleColumn0001). The probability of a child whose parents are PKD positive acquiring the same from the parents is as high as one half. Studies have also indicated that these cysts can also develop in the liver and pancreases (http://ghr.nlm.nih.gov/condition=polycystic kidneydisease).
Figure 1: Image of a Kidney with many Cysts
Source: The Merck Manual
Fig 2: Comparison between Healthy and Infected Kidneys
Source: National Kidney & Urologic Information Clearinghouse (NKUDIC)
Types of PKD
There different types of the Polycystic Kidney Disease (PKD): Autosomal Dominant PKD (ADPKD) and Autosomal Recessive PKD (ARPKD);
Autosomal Dominant PKD, from the researches conducted by various institutions, is the most common form of the disease, with a prevalence of close to 0.1% and mostly expresses itself at the midlife age (adult hood). Those children whose either of their parents has the disease stands a 50% chance of inheriting the disease. In the event that the gene responsible for the disease is not passed to the child, there is absolutely zero chance of either inheriting the disease or passing it on to their children in future. ADPKD is closely associated with two types of genes; Type 1 variant: occurs when one inherits a defective copy of PKD 1 gene that is on chromosome 16 and it’s responsible for up to 85% of ADPKD cases. The second type of ADPKD is referred to as Type 2 variant which expresses itself in the event that one inherits a defective copy of PKD 2 gene found on chromosome 4. It accounts for 15% of all the reported cases of ADPKD. The two types of ADPKD have completely overlapping symptoms and therefore are not easily distinguished from each other. In total, ADPKD accounts for approximately between 6-8% of patients on dialysis in the US (Torra, 2008).
On the other hand, Autosomal Recessive PKD is a very rare form of the PKD and causes symptoms in both the young children and infants. This disease can be acquired by the child if any of their parents posses at least a copy of the defective disease genes, with a 25% chance of having the disease. One can never inherit the disease provided that only one parent has the defective gene (http://www.kidney.ca/page.asp?intNodeId=22136).
Symptoms and Complications
Though very rare in its nature, the recessive Autosomal PKD, that usually begins to express itself during the infancy and childhood stage, may cause protrusion of the abdomen and may result into the death of the infant shortly after birth in severe cases since the development of kidney failure in the fetus may result into poor lung development (Brazy, 2006). The liver too is affected. At the age of between 5-10 years, the child begins to develop high blood pressure within the blood vessels which connect the portal system (the liver and intestines). This eventually leads to the total collapse of the operations of both the liver and the kidney (Brazy, 2006).
For the dominant PKD, there is gradual but steady development of the cysts, both in their numbers and sizes but the symptoms fail to express themselves up until between the early and middle adulthood. In some instances, the symptoms are very and can easily go unnoticed. The patients can easily live their lives and die of natural death without even knowing that they had the disorder in the first place. In the event that the disease expresses itself, the normally experienced symptoms include abdominal pain or discomfort in the same region or flank, abnormally frequent urination, while producing blood stained urine. There is also intense colicky pain emanating from the kidney stones. In other cases, there is a feeling of nausea, fatigue and slow kidney developing failure due to lack of just enough kidney tissues that are functional. This can be worsened by repeated infections of the urinary tract. At the time this disorder is detected, majority, up to a half the total patients, shall have developed hypertension (Brazy, 2006). A good number of the patients suffering from this disorder do have cysts in their livers but have not been shown to have any adverse effects on the operations of the liver. About 10% of the patients do have aneurysms in the brain which are responsible for headaches during the expansion of these vessels. They are also able to caused stroke especially when they bleed (Brazy, 2006).
Once a person has been diagnosed to have this kind of disorder, it ushers in a complete change to the lifestyle of the patient: those people who are on hard labor may not be able to cope with the demands of the jobs due to the health condition. This will mean that the person would have to look for an alternative source of employment, which if other factors are considered, may not be easy to come by. The person, in cases of family people who also double up as bread winners, may not be in a position to service the most basic bills thereby leaving the family in turmoil.
When one is detected to be suffering from the disorder, he/she is put under intense medical attention. In a worst case scenario, patient may be required to undergo organ transplant so as to rescue the person’s life. This comes with it a financial implication since these operations are often expensive. To the average person, this may mean a lot of sacrifices through forgoing other necessities so as to meet this obligation. Some of the sacrifices made may mean that the whole family adopts a totally new lifestyle and this may prove very challenging. In some instances, it leads to strained relationships resulting into total break up of the family.
As it is known, the disorder affects the patient’s kidneys, lungs, and even liver. Once the patient has been diagnosed with the disorder, he is advised against such habits like smoking and drinking as these are just but catalysts for further damage to both the liver and the lungs. The patient therefore has to completely change his/her lifestyle and assume the safer way of living as advised by the doctor. This may prove challenging especially in cases where one has a history of long term addiction to some of these drugs.
In children, when the disease affects the brain, it becomes a little difficult to proceed with the academic life. Moreover, the child may suffer permanent brain impairment. Some parents may not be able to withstand the trauma associated with having a mentally impaired person, knowing too well that there is no brighter future, which every parent would wish for their children. In case of the recessive ADPKD, the child may end up dying altogether.
Once the person is diagnosed with this disorder, he or she would be required to constantly be in touch with the doctors. The kidney failure brings with it some other complications like swelling of some body organs quite frequently and these do require the attention of a medical practioner. Besides the swelling of the body organs, there is also the associated hypertension which can lay claim on somebody’s life any moment. Any leakage in the brain as an effect of this infection would also increase the chances of getting stroke. All these give overwhelming reason for the need to be I touch with the doctors. Sometimes these visits to the medics would mean a lot of sacrifices in terms of one’s daily routines. There are also the hidden costs attached to seeing the doctors, both in terms of transport costs, the consultation fees, and costs for the prescribed drugs. The average person may find this too overwhelming to handle.
Usually, the health care program for any household tops the list of priorities, since a ‘healthy family is a happy family’. Most of these programs are provided for by the insurance companies. When taking an insurance policy for the health cover, one of the details they require is the health history and whether there are any chances of the family suffering from any known or unknown hereditary disease (s). This would in turn determine how much premium to pay or whether the family is eligible at all. Due to the existence of this disease within the family lineage, most companies would tend to shun such families and those who opt to include this category of clients would obviously raise the premiums, sometimes making it beyond the reach of the average person. This is so because the company is assured of heavily spending on the patient due to the presence of the hereditary disease and so to be on the safe side, they opt to charge highly.
As was previously discussed, the ADPKD usually begin to show signs at advanced stage. Most of the people within that it affects are therefore those in the average age of 59 years (http://www.aihw.gov.au/publications/phe/ckda05/ckda05.pdf). It is imperative to note that this group of people has dependants in the form of school going children and even the grand children, and yet some might have retired from the civil service or any other place of work. The person therefore has the responsibility of fending for the family as well as meeting his medical requirements. Sometimes the disease becomes a little mild that the person may only suffer from the associated ailments that still has to be sorted out. This might lead to death of the patient once the money reservoir dries up. The children and other dependants are then left without anybody to look up to, especially in situations where the deceased was the sole bread winner of the family. Moreover, other projects initiated by the patient and including education of the children might be in jeopardy and eventually stall due to limited resources to facilitate the same. This aggravates the family mess and psychological stress.
Those families that could afford annual holidays, just to break away from the routine daily activities may be forced to reconsider their plans. This is so because to those who plan to travel to achieve this objective, it will mean being away from your doctor and yet some complications may just emerge while away on vacation. Alternatively, the person may be forced to make special arrangements, both with the concerned doctor and or the guest house where he intends to lodge so as to take care of his/her specialized needs in terms of diet and any other recommended details by the doctor. To make these special arrangements may come at a cost, which may mean reviewing the whole holidaying idea.
If the disorder results into hypertension as indicated earlier, then the family members have the responsibility of protecting the patient from any form of shocking information that would trigger some anxiety. They also have to change the diet so as to reduce the amounts of calories in their meals as a precautionary measure not to worsen the health condition of the patient. It has been observed that anxiety do raise the blood pressure and this is no good news for the people suffering from the same.
There is also the problem of servicing loans like mortgage and or car loans since much of the money is channeled towards treatment of the sick. Continuous defaults in servicing these loans would mean that the securities provided would be seized by the loaners. This may even include closing possession of the only house the family do posses and which happens to be where they are staying. Basically this leaves the family homeless with little alternatives of their next destination. This only adds salt to the injury.
Those patients suffering from this disorder, to some extent, do have lower sexual drive. This is usually attributed to such factors like a general feeling of tiredness, and lower moods as a result of altered blood chemistry and medication. Some people on the other hand continue to enjoy a healthy sexual relationship with their partners as though everything was normal (http:// renux.dmed.ed.ac.uk/EdREN/EdRenINFObits/Dialysis_ESRFLong.html#anchor31914987 ).
Not everything look that gloomy since the patients can at the same time live their normal lives, just like any other person and stay with the disorder as long as possible and sometimes die of old age rather than any of these complications.
As much as the person is sick, he/she may continue with his work especially those in the blue collar jobs, where not much strain and anxiety is generated. This would go along way in supporting the family as well as meeting the medical bills.
A widely held belief is that exercise is good for health of an individual. The people suffering from this disorder are not spared too. Moreover, they are highly recommended. This would help to improve the blood circulation in the body and reduce the fat deposits in the body.
As long as the person is mentally sound, he/she can continue with the normal academic life up to the highest level they are able to reach while at the same time administering the recommended medications. The drugs would go along way in ensuring that the patient is comfortable and at ease as anxiety do increase the risk of high blood pressure, making the learning process enjoyable as well as improving the chances of understanding the ideas being imparted unto them.