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24-hour urine collection A test collecting all your urine for 24 hours and storing it in a special bottle for analysis. Often done in combination with the blood creatinine test to determine kidney function, called creatinine clearance and is an approximation of glomerular filtration rate.

Abdomen The area of the body that contains the pancreas, stomach, intestines, liver, gallbladder and other organs.

ACE inhibitors Angiotensin converting enzyme (ACE) inhibitors; a group of drugs commonly used to treat hypertension in PKD patients. 

ADPKD Autosomal dominant polycystic kidney disease; the more common form of PKD, it occurs in approx. 1 in 1000 live births.

Albumin A protein in your blood which acts as a carrier and helps to maintain blood volume and blood pressure. 

Albuminuria A term used to describe when albumin is present in the urine. There are filters in the kidneys that prevent large molecules, such as albumin, from passing through. If these filters are damaged, albumin passes from the blood into the urine. 

Albumin:creatinine ratio (ACR) This test can help identify kidney disease by comparing the amount of albumin in the urine with the amount of creatinine. It is used to detect whether albuminuria is present. 

Aldosterone A hormone that causes the body to retain salt and lose potassium.

ALP Alkaline phosphatase.

Anaemia Occurs when there is only a small number of red blood cells in the blood or the blood cells are not working properly. Red blood cells carry oxygen, so someone with anaemia can feel weak, tired and short of breath.

ANZSN Australian and New Zealand Society of Nephrology.

Amniocentesis A test used in prenatal diagnosis of chromosomal abnormalities in which a small amount of amniotic fluid, which contains foetal tissues, is sampled from the amniotic sac surrounding a developing foetus, and the foetal DNA is examined for genetic abnormalities.

Amniotic fluid The protective fluid contained in the amniotic sac of a pregnant female; the fluid is partially supplied by foetal urine, which is produced by the foetal kidneys; in ARPKD, poor prenatal renal function causes a reduction in this fluid.

Aneurysm An outpouching in a blood vessel, which can leak or rupture.

Angiogram Procedures that utilise contrast dye injected into the blood vessels in order to clearly visualize them; it is typically used when an aneurysm is suspected or to look for blockages in heart vessels.

Angiotensin A powerful constrictor of blood vessels; it stimulates the production of aldosterone. 

Angiotensinogen A substance in the blood that forms a hormone called angiotensin.

Angiotensin receptor blockers (ARBs) A group of drugs commonly used to treat hypertension in PKD patients.

ARB Angiotensin II receptor blocker.

ARPKD Autosomal recessive polycystic kidney disease; occurs in approx. 1 in 20,000 live births.

Arterio-venous fistula Produced when a vein and an artery in the arm or leg are joined together in an operation to make it easier to move blood in and out of the body during haemodialysis. Sometimes simply called a fistula.

Artery A large blood vessel that takes blood from the heart to other parts of the body.

Aspirate To draw fluid by suction

Bladder A muscular sac in the pelvis that holds urine.

Blood pressure A measurement of the force of the blood as it flows through the body.

Blood type A classification of blood based on the presence or absence of antigens on the surface of red blood cells; there are four major blood types —A, B, AB and O; Classifying blood type is important for working out compatibility for blood transfusions and organ transplantation.

Blood vessels The tubes that take blood around the body.

BMI Body mass index.

Caffeine A substance found in coffee, tea, soft-drinks, etc.; Caffeine has not been shown to effect cysts in PKD, recommendations for keeping your heart and blood vessels healthy are to have up to 200 mg of caffeine per day. This means up to 2 cups of coffee or 4 cups of tea per day.

Calcium A mineral that the body needs for strong bones and teeth; calcium may form stones in the kidney. 

Calcium oxalate A common type of crystal that can lead to kidney stones.

Carrier An individual who carries one copy of a recessive gene like that for ARPKD; they do not have the disease but can pass the mutation on to their offspring.

Cholesterol A naturally occurring waxy substance made by the body. It is an essential building block of cell membranes, hormones and vitamin D. Too much cholesterol in the blood can cause clogging of the arteries and lead to cardiovascular disease. 

Chorionic villus sampling (CVS) A test used in prenatal diagnosis of chromosomal abnormalities in which a sample of cells is removed from the placenta for testing.

Chronic kidney (renal) disease (CKD) A term to describe kidney damage or reduced kidney function (irrespective of the cause) that persists for more than three months. Sometimes chronic kidney disease leads to kidney failure, which requires dialysis or a kidney transplant to keep you alive.

Computed tomography Scan (CT) A screening test that may involve radiation or iodinated contrast dye, which can be toxic to kidneys.

Congenital hepatic fibrosis A liver abnormality common in children with ARPKD; it may lead eventually lead to enlargement of the liver and spleen.

Creatinine A waste product of muscle metabolism; the level of creatinine in the blood is a measure of kidney function. 

Creatinine clearance A test to calculate approximately how much actual kidney function you have. 

Cystitis A Urinary Tract Infection (UTI) with infection in the bladder.

Dialysis A treatment for end stage kidney disease that removes waste products and excess fluid from the blood by filtering the blood through a special membrane. There are two types of dialysis: haemodialysis and peritoneal dialysis.

Diastolic pressure The bottom/second number of the blood pressure reading; it measures the pressure when the heart is relaxing between beats.

Diverticula Outpouchings on the large intestine. Diverticulitis Can occur when diverticula rupture or become infected.

DNA testing A way to find out if you have a mutation or variant in a PKD gene.

Donor A person who gives a body organ, such as a kidney, to another person. For kidneys, the donor can be living or deceased.

Echocardiogram An ultrasound of the heart.

End-stage renal disease (ESRD) see kidney failure.

Erythropoietin A hormone made in the kidney that tells the bone marrow to make red blood cells; A body chemical (hormone). A lack of this hormone can cause anaemia.

Exchange One complete treatment cycle of peritoneal dialysis.

Fistula Produced when a vein and an artery in the arm or leg are joined together in an operation to make it easier to move blood in and out of the body during haemodialysis. Also known as an arterio-venous fistula.

Fluid allowance/restriction A limit or total amount of fluid to be taken daily, which is usually set by a doctor.

Fluid retention Occurs when your body holds on to liquid (water). This can cause swollen or puffy ankles, face or hands, or shortness of breath. Also known as oedema.

Gene A span of DNA that is the basic unit of inheritance; encodes a protein and has surrounding sequence to regulate the expression of this protein.

Genetic test A type of medical test that identifies changes in chromosomes, genes, or proteins.

Glomerular filtration rate (GFR) The test used to check how well the kidneys are working; it estimates how much blood passes each minute through the glomeruli (tiny filters in the kidneys that filter waste from the blood).

Haematuria Blood in the urine.

Haemodialysis 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 leukocyte 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 stones Small, hard deposits made of minerals and acid salts that form inside the kidneys.

Kidney failure Also referred to as end stage kidney failure (ESKF) end stage kidney disease (ESKD), or stage 5 chronic kidney disease, is the stage of kidney disease when a person’s kidneys have stopped working and needs to be replaced by dialysis or transplantation.

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.

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 Sometimes called a variant is an unintended change or typo in a person’s genetic code.

Nephrologist A doctor who specialises in kidneys.

Nephrons Tiny filters in the kidney that filter blood to make urine. each kidney has about one million nephrons.

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.

NSAIDs Non-steroidal anti-inflammatory drugs like aspirin or ibuprofen; these are not advisable for PKD patients to take.

Oedema  Also known as fluid retention, this occurs when your body does not get rid of enough liquid (water). This can cause swollen or puffy ankles, face or hands, or shortness of breath.

PBS Pharmaceutical Benefits Scheme.

Peritoneal dialysis (PD) A type of dialysis that removes extra fluid, electrolytes and waste through the lining of the abdominal cavity, known as the peritoneum.

PKD Polycystic kidney disease; a genetic disease that causes uncontrolled growth of cysts in the kidneys; two forms (ADPKD and ARPKD).

PKD1 The gene that provides instructions for the polycystin-1 protein; a mutation of the PKD1 gene can cause a person to have ADPKD.

PKD2 The gene that provides instructions for the polycystin-2 protein; a mutation of the PKD2 gene can cause a person to have ADPKD.

PKHD1 A mutation in the PKHD1 gene can cause a person to have ARPKD.

Polycystic liver disease (PLD) More than 80 percent of PKD patients will develop liver cysts; severe cystic liver disease is uncommon.

Polycystin A protein that is encoded by the PKD1 and PKD2 genes; regulates many important tubular cell functions.

Potassium A mineral essential to all living cells found in most foods; supplements should not be taken without consultation by your doctor or dietician.

Pre-implantation genetic diagnosis A form of early genetic diagnoses that uses vitro fertilization; eggs harvested from a mother are fertilised in a laboratory with the father’s sperm then the fertilised embryos are tested for PKD; embryos that are diagnosed as free of the disorder are then placed in the uterus with the intent to initiate a pregnancy.

Proteinuria Protein in the urine.

Pyelonephritis A UTI in which the infection is in the kidney.

Renal dietician A dietician with special knowledge and experience in kidney disease.

Renin An enzyme produced in the kidneys.

Renin-angiotensin-aldosterone system A hormone system in the body that regulates blood pressure and fluid balance.

Satiety Feeling full; a common side effect of severe PLD.

Sodium Often called ‘salt’, sodium is a mineral that helps control the amount of water in the body. The kidneys help to control the amount of sodium in the body.

Sonogram See ultrasound.

Spontaneous mutation A mutation that arises naturally and is not inherited from parents; also called a de novo.

Systolic pressure The top/first number of the blood pressure reading; it measures the pressure when the heart is pumping.

Tissue typing A test to find out the level of compatibility or matching between the organs of a donor and a recipient.

Total kidney volume (TKV) The total volume your kidney holds and is typically measured by MRI.

Truncating mutation A change in the DNA that can truncate or shorten the protein.

Ultrasound The most common and least costly screening method for PKD; a screening method that uses sound waves to develop images of the inside of the body.

Ureters The tubes that takes urine from the kidneys to the bladder.

Urethra The tube that takes urine from the bladder to the outside.

Uric acid A common type of crystal that can lead to kidney stones.

Urinalysis An analysis of the urine to determine the amount of protein, blood or presence/type of bacteria that is causing infection.

Urinary tract infection (UTI) An infection caused by bacteria in the bladder or kidneys.

Urine Liquid by-product of the body secreted by the kidneys.

Urine citrate A substance that prevents formation of kidney stones; it may be decreased in some PKD patients.

White blood cells (WBCs) WBCs are typically present in the urine in small numbers; large numbers in the urine could suggest a UTI.

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