Monday, 19 November 2007

Pain in the back, blood in the urine

Have anyone heard about ADPKD (autosomal dominant polycystic kidney disease), one of the most common genetic disorders in the world?
It is the disease of the kidneys, the pea-shape pairs organs, weight about 10 ounces each, in the back of the body on each side of your backbone. They filter your blood and produce urine to remove waste that we produce every day. They also regulates your blood chemicals and acid-base status. The other functions of them is regulation of blood cell production response to body need, produce active vitamin D for helping in calcium absorption to strengthening your bones. If they are severe damage or nearly loss of their function from any causes, so called kidney failure, you will become weakness, loss of energy, shortness of breath, nausea/vomiting, swelling, and even leading to death if kidney replacement such as dialysis, or kidney transplantation is performed. But if they loss only part of their functions, you may not have any symptoms. The most common causes of kidney failure are diabetes and hypertension, which affect adult and elderly and immune-mediated kidney dieases and ADPKD are the more common causes of kidney failure in teenage or young adults.
ADPKD is a kidney diseases characteristics with multiple, various in sizes, growing in both kidneys. The diseases are inherited from parents in a dominant fashion, that means when only one affected father or mother can produced offsprings with ADPKD ( risk is 50%). The defected gene is in every cells of the child since their birth, but usually cysts are gradual develop in their tens or twenties. The patients may come to medical attention by many presentations such as back pain, blood in urine, hypertension, mass in your belly, infection of urinary tract or accidental finding on other health problem unrelated to the disease.
The cysts will grow until they compress normal kidney tissues and this will lead to kidney failure in their 40s-50s. The patients will died if dialysis, or kidney transplantation is not given in time.
The dianosis can be made by perform the imaging study of the kidneys such as ultraasound or CT in patietns suspected to be ADPKD (previous lists of symptoms and family members affected with the same problems) or in family members of ADPKD. Molecular testing can be performed in some families to diagnosis presymptomatic and precyst formation family members.
Treatment of pain, infection and hypertension may alleviate the symptoms and slow down the groth rate of cysts. Due to its serious complications and they are quite common as high as 1 in 1000 birth, this is one of the most active research area to find the drugs to stop progression of diseases.
And we are nearly at that times to treat genetic diseases with simple drugs.
See more information of ADPKD in PKD foundation websites

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