Honors Paper: Polycystic Kidney Disease
Genetic disorders are diseases acquired through genes and family history that affect the daily lives of many people across the world. According to the World Health Organization, over 4,000 genetic disorders have been identified, some that won’t affect a person’s life drastically, and some that will drastically change and possibly destroy another’s. Just one of these 4,000 plus genetic disorders is Polycystic Kidney Disease. As the name of the disease implies, Polycystic Kidney Disease (PKD) is the condition where cysts develop in the abdomen (generally the kidneys), which greatly compromises the life of the person with the disease. The kidneys basically filter the blood of toxins, so since the kidney’s function is compromised, the blood will be filled with toxins and can cause problems further on in the body like the cardiovascular system and the digestive tract. The cysts created by PKD generally cause infections in the site of growth. Cysts are non-cancerous sacs that fill with fluid and can grow extremely large. They also add excessive weight to the organs or area of infection. According to the US Department of Health and Human Services’ National Kidney & Urologic Diseases Information Clearinghouse, there are currently 600,000 cases of Polycystic Kidney disease in the United States alone, most of which occurring in Americans in their early 30’s to late 40’s. Polycystic Kidney Disease has no cure, but treatment options are available, although costly and possibly unattainable. PKD is an especially uncommon genetic disorder. It’s often an autosomal dominant trait with 1 in 1000 people suffering, or will suffer, from it. Autosomal dominant and recessive traits are traits passed down by the non-sexual genes. This factoid is important because it can trace the cause and origin of the disorder. PKD has both forms of autosomal traits, dominant and recessive. Autosomal dominant PKD only relates to the time that someone will experience the cysts as well as the severity of the disorder, which are usually during the middle of one’s life, and under the age of 50. Autosomal dominant PKD affects 1 in 500 Americans. Autosomal recessive PKD means the person with this form of this disorder will experience the effects and strains of PKD early on in their life, starting from infancy; Autosomal dominant PKD is the typical kind that occurs, which is easier to treat and usually occurs in ones 30’s and 50’s. It may be easier to treat, but it doesn’t mean that this form is a breeze. Kidney failure is likely to happen and other side effects, but they occur later on in one’s life and are easier to diagnose. Autosomal recessive PKD is the most rare type of it, and also the most severe, with only 1 in 20,000 people getting this disorder. It’s harder to diagnose PKD in children, so gene tests often are necessary. To get ADPKD, only one parent must have the gene for it, but to get ARPKD, both parents must have the trait. ADPKD has a higher chance of occurring than the recessive type because both parents must have the AR trait, which grants a 25% chance of their child get ARPKD. There is only a 50% chance of someone having the ADPKD trait passed down, which explains why this from of PKD is the most common, at 90%. PKD symptoms are somewhat easier to spot than other diseases because of the distinct areas of pain, bodily activity, and site of major problems like aneurisms. The conditions created by PKD are often diverticulitis (bulging, inflammation, and infection of sacs in the intestine, usually the large intestine.), brain and aortic aneurisms and cysts on and in the liver, pancreas, kidneys and testicles. Half of people who carry the PKD trait have cysts on the liver and pancreas, while all symptoms are cysts on the kidneys. The symptoms of PKD are abdominal pain, blood in urine, immoderate urination at night, drowsiness and nail deviations. These symptoms are...
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