Treatment of Polycystic Kidney Disease

What is Polycystic Kidney Disease?

Polycystic kidney disease is a genetic disorder that causes the kidneys to become enlarged and filled with fluid-filled cysts. The condition can be inherited or acquired, but most cases are due to an autosomal dominant gene mutation in one of two genes: PKD1 or PKD2. Polycystin 1 mutations cause polycystic kidney disease type I; polycystins 2 and 3 mutations lead to polycystic kidney disease types II and III respectively. In addition to causing renal failure, patients may develop liver problems, heart defects, diabetes mellitus, hypertension, intracranial hemorrhage, and other complications.

Symptoms of Polycystic kidney disease

Polycystic kidney disease symptoms can include: high blood pressure, back or side pain, blood in your urine, increased size of your abdomen due to swelling of the kidneys, headaches, kidney stones, urinary tract infection, and/or kidney failure. Symptoms usually appear gradually over time. Some people have no signs or symptoms at all until they reach end-stage renal disease.

You will need to see your doctor if you experience any of these symptoms:

• Abdominal distention
• Pain in your lower back or sides
• Fever
• Nausea
• Vomiting
• Weight loss
• Fatigue
• Difficulty sleeping
• Unexplained bruising
• Darker colored stools than usual

If you think you might have this problem, it would help to know what caused it.

Causes of Polycystic Kidney Disease

The causes of Polycystic kidney disease include Autosomal recessive inheritance

Mutations in either the PKD1 or PKHD2 gene on chromosome 16p12.3

Inherited as part of a syndrome such as Alport’s Syndrome, Dent Disease, Lowe’s Syndrome, Meckel–Gruber Syndrome, Nephronophthisis, Schimke Immuno-Osseous Dysplasia, Senior–Loken Syndrome, Spondylocostal dysostosis, Van der Woude Syndrome, Williams’ Syndrome, X-linked nephropathy, and others

• Acquired through injury or trauma
• Drug use including alcohol abuse
• Diabetes Mellitus
• Obesity
• Other conditions associated with obesity
• Hereditary factors
• Family history of kidney cancer
• Genetic testing for family members

Complications of Polycystic Kidney Disease

Complications associated with polycystic kidney disease include

High blood pressure. High blood pressure is a common consequence of polycystic kidney diseases. It increases the likelihood of developing cardiovascular disease and stroke.

Kidney stone formation. As the kidneys enlarge, more calcium builds up inside them. This leads to higher levels of calcium in the bloodstream which makes it easier for the body to form crystals called “kidneys stones”. These stones often pass out of the system without treatment. However, some people require surgery to remove their stones. If left untreated, kidney stones can block the flow of urine from the bladder into the ureters and tubes leading to the kidneys. They also can break off and travel down the urethra where they lodge in the prostate gland. Left untreated, this can result in severe infections.

Loss of kidney function. The enlarged cysts cause scarring that damages the normal functioning of the kidneys. Over time, this damage results in decreased production of erythropoietin, an important hormone needed to make red cells. Without enough red cells, the amount of oxygen carried around the body decreases. In addition, the damaged kidneys are unable to filter toxins from the blood effectively. Eventually, the buildup of waste products becomes too great and the patient develops kidney failure.

Chronic pain. Painful urination may occur due to inflammation of the lining of the bladder. Other types of chronic pain may develop over time. Chronic pain can lead to depression and anxiety.

Malignant tumors. Some patients who have had polycystic kidney disease for many years eventually develop one or more cancers of the liver, pancreas, lungs, breast, ovaries, uterus, cervix, colon, rectum, stomach, esophagus, thyroid, parotid glands, skin, bone marrow, lymph nodes, brain, spinal cord, eyes, heart, nerves, muscles, joints, connective tissue, etc. Malignant tumors usually appear after 10 to 20 years of having polycystic kidney disease but sometimes happen earlier.

Most malignancies do not affect life expectancy as long as other complications of polycystic kidney disease are treated properly.Polycystic kidney disease has been linked to several forms of cancer:

Breast Cancer – Women with polycystic kidney diseases have about twice the risk of getting breast cancer than those without the condition. Breast cancer occurs at younger ages among these women.

Colon Cancer – People with polycystic kidney disorders tend to get colorectal cancer later in life compared to the general population.

Prostate Cancer – Men with polycystic kidney disorder are three times more likely to be diagnosed with prostate cancer than men without the condition. Prostate cancer tends to grow slowly so symptoms don’t always show until late stages when treatments aren’t very effective.

Renal Cell Carcinoma – RCC is a type of kidney tumor that starts in the renal tubules. It accounts for 80% of all adult kidney malignancies. Patients with PKD are 2-3 times as likely to develop RCC as individuals without PKD.

Diagnosis of Polycystic Kidney Disease

The diagnosis of polycystic kidney disease depends on medical history, physical examination, laboratory tests, imaging studies such as ultrasound scans, CT scans, MRI, nuclear medicine bone scanning, and biopsy. A family member who has been diagnosed with polycystic kidney disease should also undergo testing for this condition. Genetic counselling will help you understand what it means if you test positive for having polycystic kidney disease.

Treatment of Polycystic Kidney Disease

There is currently no cure for polycystic kidney disease in conventional treatment. Their treatment focuses on managing the symptoms and slowing down the progression of the disease. There are several treatment options available depending upon the severity of the illness. These treatments include:

Dialysis – A machine used to filter waste products from the body

Transplantation – Removing damaged organs like the kidney, replacing them with healthy ones, then returning them to the patient Medication – Drugs that slow down the growth of cysts by blocking certain hormones involved in cell division

Surgery – Removal of large cysts

Prevention of Polycystic Kidney Diseases

It is possible to prevent some forms of polycystic kidney diseases but not all. The best way to avoid developing polycystic kidney disease is to maintain a normal diet and exercise regularly. Avoiding smoking and drinking too much alcohol may reduce the risk of getting polycystic kidney disease later in life. If you already have polycystic kidney disease, there is nothing you can do about it except manage its effects. You cannot stop the development of new cysts once they start forming. However, you can take steps to control their growth.

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