Polycystic Kidney Disease Jeffrey Zhao
Two Types Genetic Disorder Occurs in humans a few mammals Around 12.5 million people worldwide Autosomal dominant polycystic kidneys Common Autosomal recessive polycystic kidneys Less common The two types are distinguished by their patterns of inheritance No ethnicity preference
What Happens? Cysts grow on Kidneys (Cysts – sacs made of tissue that contain air, fluids, or semi-solid materials) Usually affects both kidneys at the same time But in some cases, one kidney is affected first, and the other in adulthood Cysts are numerous and large Causes kidneys to enlarge Kidney no longer functions Damages the Kidneys, liver, pancreas, and in some sever cases, the heart and brain Life threatening
Other symptoms Urinal tract infections Blood in urine high blood pressure cerebral aneurysms pancreatic cysts, splenic cysts, ovarian cysts, prostatic cysts cardiac valve malfunctions
Possible Treatments Currently no distinct and effective cure Except kidney transplant Research shows that the cAMP molecule is directly related to the enlargement of kidney cysts The hormone vasopressin increases cAMP level in blood A certain chemical blocks vasopressin repressors (inhibitors) reduces levels in blood experiment shows that cysts reduce in size and retain some functions Studies show that large consumption of water also lowers vasopressin levels (research conducted in mice)
Autosomal Dominant Polycystic Kidney Noticeable around age Three genetic mutations: PKD-1 gene (Chromosome 16) (85% of cases) PKD-2 gene (Chromosome 4) (15% of cases) PKD-3 gene (Correlation not yet proven) Cysts begin to form on the nephron then spreads and expands Cells that are supposed to turn into renal tubule cells for the correct functioning of the kidney turn into cyst cells
Autosomal Recessive Polycystic Kidney Noticeable first few weeks after birth Mutation in PKHD 1 Gene Kidney retains shape but are larger with dilated urinal tracts 50% of affected die, and 80% of the survivors have impaired urinal functions, hypertension, and esophageal varices Risk factors: Black race, male Future therapies may target aberrant cell signaling mechanisms, as in ADPKD Treatment: Hypertension control
Sources e e dominant dominant