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Polycystic Kidney Disease
Transcript of Polycystic Kidney Disease
Genetics Home Reference
Symptoms of Polycystic Kidney Disease The symptoms of PKD include Urinary tract
infections Hematuria Aneurysms High blood
pressure Diverticulosis Abnormal
heart valves Pancreatic
stones Blood in the urine Hollow or fluid-filled bulging sacs in the colon Causes Polycystic Kidney Disease is an inherited disorder, which is therefore genetic.
More than 250 mutations of the PKD1 gene have been observed in patients with autosomal dominant PKD. A mutation of this gene, which is located on chromasome 16, causes autosomal dominant Polycystic Kidney Disease, which accounts for approximately 85% of PKD cases. A mutation of PKD2 gene accounts for the other 15%. Patients with mutations in the PKD gene generally have a much less severe form of the disease. An Introduction to Human Disease: Pathology and Pathophysiology Correlations By Leonard V. Crowley
National Kidney Foundation USA Pathogenisis The second type of PKD, autosomal recessive PKD is caused by
over 270 mutations of PKHD1 which is located on chromasome 6.
This causes the much more serious disorder which almost certainly results in childhood death. However, this type of the disease affects only I in 20000-40000 people. What happens? The cysts grow out of the nephrons, the tiny filtering tubules of the kidney. This is due to the disturbed proliferation of the nephrotic epithelial cells. The cysts eventually detach and enlarge due to the excretion of fluid by the epithelium lining. The kidneys enlarge with the cysts, while normal kidney tissue is being compressed all the time by the cysts, of which there can be thousands. In an adult with autosomal dominant PKD, a diseased kidney can weigh 20-30 pounds. Due to the compression by the cysts, normal renal tissue is destroyed leading to reduced renal function and eventually renal failure when almost all healthy tissue is destroyed. Diagnosis PKD can be diagosed in a number of ways. An Ultrasound examination and a CT scan will show the enlarged diseased kidneys, while an MRI scan will also show the enlarged, cyst-covered kidneys once the cysts are a half an inch. Ultrasound can be used to identify cysts even in the foetus, when the baby is suffering from autosomal recessive Polycystic Kidney Disease. A genetic test is also present although this has limited advantages as there is no cure and this test can't predict the severity of the disease. Congenital cerebral aneurysms may occur therefore MRI screening is used on a lot of patients with autosomal dominant PKD. Prevalence PKD is the most frequently inherited disease in the world, and it affects over I2,000,000 people. It is the fourth leading cause of kidney failure, wtih diabetes, hypertension and glomerulonephritis being the top three causes. It affects males and females equally. There also does not seem to be any link between race and the PKDI, PKD2 or PKHD gene. Prognosis and Treatment After years, PKD causes the kidneys to fail and two options must be considered for the patient to survive. These options are dialysis and transplantation. The two types of dialysis that exist are haemodialysis and peritoneal dialysis. The first involves blood being circulated in an external filter where its cleaned and then returned to the circulation. In peritoneal dialysis however, a fluid is introduced to the abdomen where it absorbs the wastes and is then removed. Transplantation is now quite a common and effective procedure as a healthy transplanted kidney will not develop the disease. The patient however, must take anti-rejection drugs for life. However, there is often a long wait for a suitable organ. Management There are many drugs available to deal with the side effects of PKD, for example, medication to deal with high blood pressure and antibiotics to cure urinary tract infections and surgery to relieve pain. Surgery is not, however a common procedure in relation to PKD, as the cysts will grow back and surgery is only performed when the cysts are very large and causing pain. Hope for the Future Researchers have now managed to breed mice with a genetic disease that parallels both inherited forms of human Polycystic Kidney Disease. Studying these mice will hopefully lead to greater understanding of the disease and eventually, a cure. In recent years, researchers have discovered several compounds that appear to inhibit cyst formation in mice with the PKD gene. Some of these compounds are in clinical testing in humans. Reseachers are hopeful that further testing will lead to effective treatments for humans with the disease. Pancreatic