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