Polycystic kidney disease also called as PKD, primarily a genetic disease, means it tend to be carried in family tree, which make it different from other kidney problem, such as kidney stones, ect. But like other genetic diseases, there still many factor that include in it. Generally PKD has two forms, one is Autosomal Dominant, which affects 1 in 400 to 1,000 adults, and the other one is Autosomal Recessive, which affects 1 in 10,000 children and infants. About 10% of patients disorder with autosomal dominant PKD, relatively caused by a spontaneous mutation rather than an inherited genetic defect. Shortly, Polycystic kidney disease describes to have characterized by multiple cysts that grow on the cortex, medulla, and distal tubules and the collecting ducts, increasing kidney mass and reducing function.
The PKD disease usually takes years to develop; the first signs and symptoms may similar like kidney stones diseases, such as urinary tract infection, flank pain, and high blood pressure. Patients usually experience a progressive, not sudden, decline in renal function, and about 50% of them develop end-stage renal disease by age 60. However, some patients experience a sudden decline in renal function from a disease complication, such as kidney stones or clot obstructing the ureter or ureteral compression by a cyst.
In many cases, its found that around 60% and 70% of patients with PKD also have liver cysts, and about 26% of patients with PKD have mitral valve prolapse, if this statistic compared to 3% of people in the general population. Patients with PKD also are at increased risk for intracranial aneurysms, inguinal and umbilical hernias, and diverticulosis
One thing that patient must be aware is Autosomal Dominant PKD usually can’t be detected on physical exam or by blood or urine tests, although larger cysts can be detected on ultrasound. Routine screening isn’t recommended, but as it known as genetic diseases, when the patients with a family history of PKD likely have bigger risk to carried. There for this type of patient should be screened early, so when the first sign is detected, a proper treat can be perform as soon as possible.
Compile and re-written based on article by Becky Lien Munson, RN
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