Approximately one in four people with Joubert syndrome are affected by kidney disease (Healthcare recommendations for Joubert syndrome, 2019). Kidney disease is strongly associated with several JS genes. The most common renal diagnoses include nephronophthisis and polycystic or multicystic kidney disease. Unfortunately, kidney disease frequently progresses to end-stage renal disease (ESRD) forcing families to make decisions about invasive treatments including dialysis or transplantation. For more information, check out the Healthcare recommendations and the short videos from Dr. Jordan Symons and Dr. John Sayer.
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Your kidneys, ureters, bladder, and urethra are parts of your urinary system.
Your kidneys remove wastes and extra fluid from your body through the production of urine. Other essential functions of your kidneys include:
- Maintaining a healthy balance of water and electrolytes
- Helping to control blood pressure
- Promoting the production of red blood cells
The term renal is often used to describe the kidney and its function.
A nephrologist is a doctor who specializes in the diagnosis and management of kidney disease.
Anemia is a condition in which the body lacks enough healthy red blood cells to carry adequate oxygen to the tissues.
Polyuria is a condition in which the body produces excessive or abnormally large amounts of urine and can be a sign of kidney disease.
Polydipsia is the medical term for extreme thirst and can also be a symptom of kidney disease.
High blood pressure or hypertension can be a cause or result of kidney disease.
Electrolytes are minerals found in your blood stream that help regulate and control the balance of fluids in the body. These minerals play a role in regulating blood pressure, muscle contraction and keep your body functioning properly. The common electrolytes include sodium, potassium, calcium, phosphorus and magnesium.
BUN or blood urea nitrogen is a blood test that indicates how well your kidneys are functioning.
Creatinine is a waste substance produced by the muscles during normal use. Creatinine is filtered from the blood by the kidneys. A high creatinine level can indicate poor kidney function.
Glomerular filtration rate (GFR) is another measure of the health of the kidneys. GFR provides an estimate of functioning kidney tissue.
Polycystic or multicystic kidney disease is a condition that is present at birth. The kidneys have cysts or fluid-filled pockets that interfere with their ability to function and can cause kidney failure.
Nephronophthisis is a rare, genetic disorder that leads to inflammation and scarring (fibrosis) of the kidneys. These abnormalities cause increased urine production (polyuria), excessive thirst (polydipsia), general weakness, extreme tiredness (fatigue), and anemia (low red blood count). Nephronophthisis eventually leads to end-stage renal disease (ESRD).
Chronic kidney disease (CKD) occurs when the kidneys are damaged and can’t filter blood properly. When the kidney function is decreased for longer than three months, the disease becomes “chronic”.
In end-stage renal disease(ESRD), the kidneys are no longer able to filter fluids and waste products from the body effectively.
Dialysis is a procedure that filters or separates waste products and extra water from your blood. It is one of the main treatments for kidney failure and aims to restore the balance of electrolytes and control blood pressure. There are two main types of dialysis.
- In hemodialysis, the blood is removed from the body, usually through a special fistula placed in the arm. The blood is then filtered or dialyzed by a special machine and returned to the body.
- Peritoneal dialysis (PD) is a form of dialysis that takes place inside the peritoneal cavity (inside the abdomen) through a special catheter. Fluid is placed into the abdomen to remove waste products and fluid from the body.
Kidney transplantation is a surgical procedure to replace a diseased kidney with a healthy kidney.