DNA testing
A way to find out if you have a PKD gene. See also gene linkage testing and direct mutation analysis.
Echocardiogram
An ultrasound of the heart.
End-stage renal disease (ESRD)
When normal kidney function declines and needs to be replaced by dialysis or transplantation; also known as kidney failure; typically considered to occur when GFR is at 10 or less.
Erythropoietin
Also called EPO; a hormone made in the kidney that tells the bone marrow to make red blood cells; if your kidneys fail or are removed, you must be given EPO via blood transfusions or a synthetic supplement.
Estimated post-transplant survival score (EPTS)
A percentile score that ranges from zero to 100 and is assigned to each potential transplant recipient; the score is based on how long you will need a functioning kidney as compared to all other transplant candidates on the list.
Gadolinium
A special dye used to improve visualization in MRIs.
Gene linkage testing
A type of DNA testing that can determine if you have PKD with 99 percent probability in those with a family history. It requires samples from several family members and looks for “markers” in the DNA. A detailed family history is also required.
Glomerular filtration rate (GFR)
The test used to check how well the kidneys are working; it estimates how much blood passes through the glomeruli each minute. Glomeruli are the tiny filters in the kidneys that filter waste from the blood.
Glomerulus
A small tuft of blood capillaries in the kidney, responsible for filtering out waste products.
Hematuria
Blood in the urine.
Hemodialysis (Hemo)
A procedure that removes extra fluid, electrolytes and waste from blood using a dialysis machine.
Hernia
Occurs when the contents of a body cavity bulge out of the area where it is normally contained. Two types of hernia, inguinal and umbilical, are more common in those with PKD.
Human leuocyte antigens (HLA)
Markers that let your immune system know which cells belong to your body and which do not; used in tissue typing.
Hypertension
High blood pressure; it affects about 60-70 percent of PKD patients and begins early in the course of the disease.
Inactivating mutation
A change in the DNA that leads to a reduced or complete loss of function of a protein.
Intercranial aneurysm
An aneurysm that occurs in the blood vessels of the brain.
Kidney Allocation System (KAS)
The system that allocates deceased kidney donations to waiting recipients.
Kidney donor profile index (KDPI)
A percentile score that ranges from zero to 100 and is assigned to each available deceased kidney; the score is associated with how long the kidney is likely to function as compared to other kidneys, based on information about the donor.
Kidney stones
Kidney stones can be painful and occur more often in PKD patients than in the general population. Dr. Arlene Chapman, Dr. Bharathi Reddy and Dr. Anna Zisman will help you understand what kidney stones are, why they happen and what can be done to treat them.
Lithotripter
A machine that uses ultrasound waves to treat large kidney stones.
Lithotripter
A machine that uses ultrasound waves to treat large kidney stones.
Liver function tests
Blood tests that help determine how well the liver is functioning.
Living donation
When a living person chooses to donate their kidney (or other organ) to someone who needs a transplant.
Magnesium
A mineral in the body that is important for metabolism; a deficiency has been associated with high blood pressure.
Magnetic resonance arteriogram (MRA)
A type of MRI used to visualize the blood vessels in the brain to screen for aneurysms; it is similar to an MRI scan but does not use contrast dye or radiation.
Magnetic resonance imaging (MRI)
A screening test that uses a powerful magnetic field, radio frequency pulses and a computer to produce detailed pictures of the inside of the body.
Microscopic hematuria
Small amounts of blood in the urine.
Mitral valve prolapse (MVP)
Occurs when the valve between your heart’s left upper chamber (left atrium) and the left lower chamber (left ventricle) doesn’t close properly.
Mutation
An unintended change or typo in a person’s genetic code.
National Institutes of Health (NIH)
The agency of the U.S. government primarily responsible for biomedical and health-related research.
National Organ Procurement and Transplantation Network (OPTN)
The national registry where donor organs are matched to waiting recipients.
Neonatal period
The first month of life of a newborn.
Nephrectomy
A surgical procedure to remove one or both kidneys.
Nephrogenic Systemic Fibrosis (NSF)
A rare but serious complication that can arise from the use of gadolinium.
Nephrologist
A doctor who specializes in kidneys.
Nephrons
Tiny filters in the kidney made of thin blood vessels; each kidney has about one million nephrons.
Neuroradiologist
The type of surgeon who repairs aneurysms.
Non-directed donation
When a living donor does not name a specific person to receive their organ; also called altruistic donation.
Non-inactivating mutation
A change in the DNA that does not lead to a loss of function of a protein.
Non-truncating mutation
A change in the DNA that does not truncate or shorten the protein.