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ADPKD and ARPKD

What is Autosomal Dominant PKD

Symptoms of ADPKD

Complications of ADPKD

How to diagnose ADPKD

What are the treatments for ADPKD

What is Autosomal Recessive PKD

Symptoms of ARPKD

Complications of ARPKD

How to diagnose ARPKD

What are the treatments for ARPKD

ADPKD is the abbreviation of autosomal dominant polycystic kidney disease and ARPKD is the abbreviation of autosomal recessive polycystic kidney disease. ADPKD and ARPKD are common hereditary disease in the kidneys and they are characterized by numerous fluid-filled sacs (cysts) in the kidneys and the number and size of these cysts will continue to increase. These cysts will oppress and replace normal renal tissues and damage renal structure and functions and in the end lead to ESRD (end stage renal disease).

What is genetic disease?

Gene is the material basis of heredity and it can pass the genetic information to the next generation through copying so that the offspring can have similar traits with parents. Diseases that are caused by changes in the genetic materials weather at the chromosomal level or at the gene level are collectively referred to as genetic diseases. A genetic disease occurs when one or both parents pass abnormal genes to the child and genetic disease can be divided into dominant and recessive according to different hereditary mode. Dominant means that receiving only one abnormal gene from one parent can cause the disease and recessive means that only when the child inherits abnormal genes from both parents. And the child that receive only one gene copy for a recessive disease will not develop the disease, but could pass the abnormal gene to the following generations.

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Autosomal Dominant Polycystic Kidney Disease (ADPKD)

What is Autosomal Dominant PKD?

ADPKD, also known as adult PKD, is the most common genetic disease in the kidney and it usually occurs to people that are 30 to 50. About half patients that are over 60 can develop into end stage renal failure. If one parent has the disease then the child has 50% chance to inherit the disease. However there are about 10% ADPKD have no family history and they get the disease due to spontaneous gene mutation.

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Symptoms of ADPKD

1.Back pain or flank. It is the most common symptom.

2. Hematuria (blood urine). Above 90% patients have cystic bleeding or gross hematuria.

3. High blood pressure. One of the earliest symptoms and develops in most cases by age from 20 to 30.

2.Urinary tract infection. Urinary tract infection and cysts will affect each other and fall into vicious circle.

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Complications of ADPKD

1.Cysts in liver and pancreas, spleen, ovarian, arachnoid membrane, pineal gland, etc

2. Kidney stones

3. Abnormal heart valves

4. Aneurysms

5. Diverticulosis

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How to diagnose ADPKD

Ultrasound is the first preferred diagnostic method for PKD and safe sound waves are passed through the body to form the picture of the kidneys and detect cysts on kidneys. More precise tests like CT (computerized tomography) and MRI (magnetic resonance imaging) are also widely used which can help measure kidney and cyst volume, monitor cyst growth and have early detection of aneurysm.

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What are the treatments for ADPKD?

As a genetic disease, there is at present no instant cure for ADPKD. However early effective treatment can alleviate discomforts, slow down the illness progression and prolong life expectancy. Current treatment options for ADPKD include: dietotherapy, symptomatic treatment for easing pains, bleeding, hypertension and infections, etc and renal replacement treatments like dialysis and kidney transplant.

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Autosomal Recessive Polycystic Kidney Disease

What is Autosomal Recessive PKD?

ARPKD is also known as infantile PKD because patients usually have obvious symptoms early in babyhood. It is much rarer in clinic and mainly occurs to children. It has been found to be related to gene PKHD1. Only when both parents have the abnormal gene and they both pass the gene to the baby can the disease be inherited (25%). If only one parent has the gene and passes it to the baby, the baby will not have the disease but the abnormal gene will be passed to the following generation.

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Symptoms of ARPKD

The severity of ARPKD varies a lot from person to person. Some patients do not have symptoms until they reach childhood or even adulthood while some severe cases will die after birth within hours or days due to respiratory difficulties or respiratory failure.

1. High blood pressure

2. Frequent urination

3.Urinary tract infection

4. Back pain

5. Hematuria

6. Anemia

7. Urinary tract infection

8. Retardation

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Complications of ARPKD

1. Cysts in liver and spleen

2. Kidney stone

3. Low blood cell count

4. Varicose veins

5. Liver fibrosis

6. Portal hypertension

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How to diagnose ARPKD

Since ARPKD usually has poor prognosis, the treatment principls are to lower the birth rate of diseased children, have early diangosis, regular checks and positive prevention and treatment for symptoms and complications and in the end stage renal replacement therapies.

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What are the treatments for ARPKD

Since ARPKD usually has poor prognosis, the treatment principls are to lower the birth rate of diseased children, have early diangosis, regular checks and positive prevention and treatment for symptoms and complications and in the end stage renal replacement therapies

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