Polycystic Kidney Disease |PKD| Doctors Gang Nephrology

Adult polycystic kidney

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Polycystic kidney disease (PKD) is a inherited condition in which multiple fluid-filled sacs or cysts develop throughout the both kidneys. 

These cysts vary in different size and number, and may affect the ability of the kidney’s function. PKD(polycystic kidney disease) cysts may eventually cause kidney damage if they become very large and numerous.

PKD is the 4th leading cause of kidney failure in North America. It is estimated that approximately 5% of patients requiring dialysis(hemodialysis or peritoneal dialysis) or a kidney transplant have PKD.

Depending on the type of polycystic kidney disease, symptoms usually appear in early age, between the ages of 30 and 40 years(ADPKD), or in infancy or early childhood(ARPKD). PKD can be detected by USG(ultrasonogram). Both men and women of all races are affected equally.

Causes of polycystic kidney disease   

• PKD is an inherited / genetic disease. This means that it is passed on from parents to children through inheritance. 

Type of polycystic kidney disease   

There are two types of PKD/polycystic kidney disease.

• 1)90% of people with PKD( polycystic kidney disease) have autosomal dominant polycystic kidney disease (ADPKD), or adult PKD. 
• 2)The remaining 10% have autosomal recessive PKD (polycystic kidney disease) (ARPKD), which affects infants and children.

What is the Autosomal dominant polycystic kidney disease( PKD)? 

Adult PKD, occurs when one parent has passed the gene on to her child. Because the gene is dominant, there is a Fifty percent   chance that a child will get polycystic kidney disease if one parent has the disease. In some cases, however, this form of PKD(polycystic kidney disease)  can occur spontaneously as a result of a genetic mutation and is not passed on from parents.

What is the Autosomal recessive polycystic kidney disease( PKD)?  

ARPKD is the rarer form of PKD (polycystic kidney disease). ARPKD(autosomal recessive PKD) happens when each parent is a “silent carrier.” This means that the parents carry the gene but are not affected by PKD. There is a  twenty five percent chance that a child born to parents that are both carriers will get the disease. If only one parent(father or mother) carries the gene, children will not be affected.

What are the sign & Symptoms of polycystic kidney disease( PKD)? 

The kidneys, which are about the size of a fist, play 3 major roles:

removing waste products, and toxins from the body, keeping toxins from building up in the bloodstream.

producing hormones (such as aldosterone, cortisol from adrenal gland and erythropoetun, 1,2 dihidroxycholechalceferol from kidney) that control other body functions, such as regulating blood pressure and producing red blood cells. 

regulating the levels of minerals or electrolytes by aldosterone hormine (sodium, calcium, and potassium, for example) and the levels of fluid in the body

In early PKD, there are usually no symptoms.

About 50% people with PKD never get symptoms and are never diagnosed their PKD.

People who develop symptoms will generally do so between the ages of thirty and fourty. The symptoms are directly related to infections, swelling of the cysts, or the body’s inability to remove harmful products, and toxins that are circulating in the bloodstream.

Some common symptoms of polycystic kidney diseases

• include back pain, tenderness around the abdomen.

Someone with PKD might experience:

• 1)bloody urine
• 2)kidney infections
• 3)cysts elsewhere in the body, such as the liver and pancreas
• 4)abnormal heart valves
• 5)kidney stones
• 6)hypertension or high blood pressure
• 7)abdominal pain due to the enlarged kidneys press on the abdomen. 
• puffy eyes, hands, and feet 
• 8)increased urination, especially at night
• 9)pain or difficulty passing urine
• 10)varicose veins
• 11)hemorrhoids
• 12)headaches
• 13)fever
• 14)Urinary tract infections and kidney stones are common among people with PKD. 

What are the complications of Polycystic kidney disease (PKD)?

Complications of polycystic kidney disease :

• About 20% to 30% of people with PKD (polycystic kidney disease) develop kidney stones. 
• Highpertension occurs in about 60% to 70% of people with PKD and for many is the first sign of the polycystic kidney disease.
• People with polycystic kidney disease have a 5% to 10% risk of developing an intracranial aneurysm. Some aneurysms can rupture, causing symptoms such as sudden severe headache, nausea,and vomiting, and pain when moving the neck of the PKD patients. There is a greter risk of rupture in people with a family history of intracranial aneurysm or uncontrolled high blood pressure(HTN). These symptoms require immediate medical attention.
• Cysts may be appear in other parts of the human body such as the liver, pancreas, brain, colon, and testes. About 25% of people with PKD also develop weakened heart valves, which can sometimes lead to the need for valve replacement surgery.
• By the age of 75, 50% to 75% of people with polycystic kidney disease will need either dialysis or a kidney transplant. This is more common in men and those with hypertension or high blood pressure.

What Are the Laboratory test for diagnosing of polycystic kidney disease? 

Family history is very important for diagnosis of polycystic kidney disease (PKD).

Making the Diagnosis, Family history is important in reaching a proper diagnosis. The less common autosomal recessive  PKD can only be diagnosed through testing.

The most reliable way to diagnose polycystic kidney disease (PKD) is by an ultrasonography of   of the kidneys 

the images allow the doctors to see the cysts, and more specifically, their size and how numerous they are. Occasionally, PKD is discovered by accident during routine Laboratory test  such as an ultrasound or through blood or urine tests being done for other reasons. Blood tests can show a buildup of toxins, waste products  such as urea, while urine tests can show that the kidneys aren’t filtering properly, allowing protein or red blood cells(erythrocyte)  to pass through the kidney.

When polycystic kidney disease cysts are quite numerous and large, which are sometimes able to palpate the cyst.

computed tomography(CT) scans and magnetic resonance imaging(MRI) also allow doctors to see the cysts, but the diagnosis can usually be made with an ultrasound.

Treatment and Prevention of polycystic kidney disease  (PKD)

Although PKD does not have a cure by specific therapy, or treatment.Most people with polycystic kidney disease can lead to a normal life. The aim of polycystic kidney disease or PKD treatment is to ease the symptoms and prevent infections and other problems that can make the condition worse. Treatment is needed to keep complications from occurring or to delay their development such as End stage renal disease. 

Pain Management of polycystic kidney disease patients

In order to relieve pain from the cysts, the larger cysts can sometimes be drained of the excess fluid, relieving pressure on the area around cyst. To do this, a small catheter(smll needle) is inserted into the cyst to remove the fluid. In severe cases, surgery might be required to remove the cysts, but this is not permanent solution it is usually only a temporary solution. Since many analgesics medications are removed from the body by the kidneys, people with polycystic kidney disease should check with their doctor or pharmacist before starting any medications for pain.

Hypertension Management of polycystic kidney disease patients

Controlling high blood pressure is important to prevention of further kidney damage. Treatment of high blood pressure might involve changes in exercise, diet, stress,and medications.

Urinary tract Infections (UTIs) Management of polycystic kidney disease patients

 UTIs should be treated as soon as possible, usually with broad spectrum antibiotics, since infection can cause further damage to the renal system.

Kidney failure Management of polycystic kidney disease patients

If PKD results in kidney failure or ESRD (end-stage renal disease)  and all other treatments have not stopped the progression of kidney damage. In the condition dialysis, or a kidney transplant may be considered.

Dialysis for Management of polycystic kidney disease patients

Dialysis is a process that removes excess body fluids and waste products from the bloodstream using a membrane instead of a kidney – as a filter. Kidney transplants are common now and it have a good success rate in Bangladesh. Someone who has had a successful kidney transplant can go on to live a normal, healthy life for many years.

What are the dietary changes of polycystic kidney disease (PKD) patients? 

 People with polycystic kidney disease should limit their dietary sodium intake to 2 g per day or less. Reduce potassium intake and should not be eat more than 60g dietary protein. 

Reference book:

Davidson’s principle & practice of medicine