Mar
What causes it, what are survival chances, where is the gene for it located?????
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yea i know what it is but since its YOUR biology homework, im not helping!!!!!!!!!!!!!!!!!!!!
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GO TO THIS LINK
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http://ghr.nlm.nih.gov/condition=polycys…
http://www.kidney.org/atoz/pdf/polycysti…
These sites should help.
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Polycystic kidney disease is a kidney disorder passed down through families in which multiple cysts form on the kidneys, causing them to become enlarged.
Polycystic kidney disease (PKD) is passed down through families (inherited), usually as an autosomal dominant trait. If one parent carries the gene, the children have a 50% chance of developing the disorder.
Autosomal dominant PKD occurs in both children and adults, but it is much more common in adults, with symptoms often not showing up until middle age. It affects nearly 1 in 1,000 Americans. The actual number may be more, as some people do not have symptoms. The disorder may not be discovered unless tests revealing the disease are performed for other reasons.
An autosomal recessive form of polycystic kidney disease also exists and appears in infancy or childhood. This type tends to be very serious and progresses rapidly, resulting in end-stage kidney failure and generally causing death in infancy or childhood.
Persons with PKD have multiple clusters of cysts form on the kidneys. The exact action that triggers cyst formation is unknown. In early stages of the disease, the cysts cause the kidney to swell, disrupting kidney function and leading to chronic high blood pressure and kidney infections. The cysts may cause the kidneys to increase production of erythropoietin, a hormone that stimulates production of red blood cells. This leads to too many red blood cells, rather than the anemia seen in chronic kidney disease.
Answer:
Approximately 85-90% of patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) have an abnormality on the short arm of chromosome 16 (ie, ADPKD type 1 [ADPKD1]). A second defect, termed ADPKD type 2 (ADPKD2), is responsible for 5-15% of ADPKD cases and is found on the long arm of chromosome 4. A third genotype may exist, but no genomic locus is assigned.
ADPKD is a genetically heterogeneous condition that involves at least 2 genes.
PKD1 is located on 16p13.3 and accounts for most ADPKD cases.
PKD2 is located on 4q21-q22 and accounts for 15% of ADPKD cases.
PKD1 codes for a 4304–amino acid protein (polycystin 1) with as yet undefined function but interacts with polycystin 2 and is involved in cell cycle regulation and intracellular calcium transport. Polycystin 1 localizes in the primary cilia of renal epithelial cells, which function as mechanosensors and chemosensors.
PKD2 codes for a 968–amino acid protein (polycystin 2) that is structurally similar to polycystin 1 and colocalizes to the primary cilia of renal epithelial cells. It is a member of the family of voltage-activated calcium channels.
A genotype-phenotype correlation has not been well established for ADPKD1 and ADPKD2.
ADPKD1 is more severe than ADPKD2. The mean age of End-Stage Renal Disease (ESRD) for patients with ADPKD1 is 53 years. The mean age of ESRD for patients with ADPKD2 is 68 years.
Approximately 85-90% of patients with ADPKD have ADPKD1; most of the remaining patients have ADPKD2.
Patients may develop renal failure, usually in the fourth to sixth decade of life.
Pain, located in the abdomen, the flank, or the back, is the most common initial complaint, and it is almost universally present in patients with ADPKD.
Hypertension is one of the most common early manifestations of ADPKD. Even when renal function is normal, hypertension has been found in 50-75% of patients.
Ensure that patients are aware that this disease is hereditary and that their children have a 50% chance of acquiring the disease. Although several treatments are being tested, this disease has no cure. Only interventions that slow progression of renal disease (eg, adequate blood pressure control) are of benefit.
The major cause of morbidity is progressive renal dysfunction, resulting in grossly enlarged kidneys and kidney failure. In general, half of patients with ADPKD undergo renal replacement therapy by age 60 years.Cardiovascular pathology and infections account for approximately 90% of deaths of those patients treated by hemodialysis or peritoneal dialysis and after renal transplantation.