Polycystic Kidney Disease
Polycystic kidney disease (PKD) is a genetic disorder that causes cluster of fluid filled cysts to grow in kidneys. Unlike the usually harmless simple kidney cysts that can form in the kidneys later in life, PKD cysts can change the shape of kidneys, including making them much larger. PKD is a serious type of chronic kidney disease which can lead to kidney failure. PKD affects people of all ages, races and ethnicities worldwide. The disorder occurs equally in women and men.
• Autosomal dominant PKD (ADPKD)
It causes cysts only in the kidneys. It is often called “adult PKD”, because people with this type of PKD might not notice any symptoms until they are between 30 and 50 years old.
Only one parent needs to have the disease for it to pass to the children. It one parent has ADPKD, each child has a 50% chance of getting the disease.This form accounts for the most of the cases of PKD.
• Autosomal recessive PKD (ARPKD)
It causes cysts to grow in both the kidneys and the liver. It is often called infantile PKD because babies can show signs of the disease in their first few months of life, or even before they are born.
Both parents must have abnormal genes to pass on this form of the disease. If both parents carry a gene for this disorder, each child has a 25% chance of getting the disease.
• High blood pressure
• Increase size of abdomen due to enlarged kidneys
• A feeling of fullness in abdomen
• Back or side pain
• Urinary tract or kidney infections
• Blood in urine
• Kidney stones
• Kidney failure
Mutations in the PKD1, PKD2 and PKHD1 genes causes polycystic kidney disease.
Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These cases are called acquired polycystic kidney disease. This form of the disorder occurs most offers in people with other types of kidney disease who have been treated for several years with haemodialysis.
• High blood pressure
• Progressive loss of kidney function
• Growth of cysts in the liver
• Development of an aneurysm (a ballon like bulge in a blood vessel) in the brain
• Chronic pain in back or sides
• Pregnancy complications like preeclampsia
• Heart valve abnormalities such as mitral valve prolapse
• Colon problems such as pouches or sacs in the wall of the colon (diverticulosis)
A nephrologist diagnoses PKD. They may order the following imaging exams to check your kidneys-
• Kidney ultrasound or prenatal ultrasound
A healthcare provider may also recommend genetic testing. A blood or saliva test can check for the mutated genes that cause PKD.
• Blood pressure management
Your doctor helps you control your blood pressure with medicine, diet and exercise.
• Breathing support
Infants with underdeveloped lungs and breathing problems may need mechanical ventilation.
If you have kidney failure, you may need dialysis.
• Growth therapy
Underweight or underdeveloped infants may need help in growing. A healthcare provider may recommend nutritional therapy or human growth hormone.
• Kidney transplant
The patient may need a kidney transplant if ADPKD progresses to end-stage renal failure.
• Pain management
Medicine can control pain caused by infections, kidney stones or burst cysts. Your healthcare provider should approve any pain medicines you take. Some medicines can make kidney damage worse.
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