PKD is the abbreviated form of Polycystic Kidney Disease, a genetic disease that characterizes the growth of many fluid-filled cysts in the kidneys. These cysts are typically benign but have the potency to grow and multiply. As a result, the kidneys expand and have impaired functional capability. PKD affects millions of people worldwide and, if not well treated, could lead to hypertension and kidney failure.

It is the most common hereditary kidney disease and exists in two major forms:

• Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Autosomal Recessive Polycystic Kidney Disease (ARPKD)

The size of cysts in the kidneys can be small to multiple numbers. Because the cysts are of varying sizes, they compress the tissue surrounding the kidney, which ultimately results in hypertension and kidney failure impaired kidney function. The growth of cysts keeps on increasing, making the kidneys enlarged and several times heavier than their original weight.

Even though the kidneys are mainly affected, PKD can cause problems in many other parts of the body, especially the liver, pancreas, and blood vessels.

Symptoms of Polycystic Kidney Disease

In the early stages of PKD, very few symptoms are noticed. However, as the size and number of cysts increase, symptoms start to develop. These may begin in mid-adult life for ADPKD but immediately at birth in ARPKD. Some common symptoms of PKD include the following:

• High blood pressure: Often one of the first manifestations of PKD, untreated hypertension, adversely affects kidney function.
• Pain: Due to enlarged kidneys or cyst rupture, you may experience dull or sharp pain in the back, sides, or abdomen.
• Blood in urine: The cyst can rupture and cause hematuria.
• Recurrent kidney infections:The infection occurs when the bacteria penetrate the fluid-filled cysts.
• Kidney stones: People who experience PKD are highly prone to developing kidney stones.
• Recurrent UTI: People suffering from PKD tend to have recurrent UTIs.
• If not detected in time and untreated: It may lead to progressive kidney failure.
• Other causes: These include failure of the kidneys, cysts in the liver, and other cardiovascular diseases like aneurysms.

Causes of PKD

PKD is caused by mutations in specific genes passed from one or both parents. In ADPKD, there is usually a mutation in either PKD1 or PKD2. These genes code proteins that aid in the development and functioning of kidney cells. Mutations in these proteins cause abnormal cyst development in the kidneys.

ARPKD causes cyst development due to mutations of the PKHD1 gene that controls the production of protein in the kidneys and liver.

Diagnosis

Imaging techniques are most commonly used to diagnose PKD. These include:

• Ultrasound imaging
• MRI or Magnetic Resonance Imaging
• If it exists in the family history, then genetic testing may also be recommended to confirm whether there are mutations in PKD1, PKD2, or PKHD1.

Treatment & Management

PKD typically has no cure, but the main focus of treatment is to prevent the onset of symptoms and slow the progression of kidney damage.

• Lifestyle modification: Healthy lifestyle changes, such as a low-sodium diet, regular exercise, and non-smoking, may delay the progression of PKD.
• Blood pressure control: Blood pressure must be kept within normal limits since high blood pressure hastens renal damage.
• Pain relief: Over-the-counter or prescription analgesics can be given to control pain. In severe cases, cyst drainage or surgery is necessary.
• Infections prevention and treatment: Infections, such as UTIs and kidney infections, must be treated with antibiotics as soon as possible to prevent further damage to the kidneys.
• In case of progressive kidney failure: Certain medications like Vaptan can help in slowing down the rate of progressive kidney failure.
• Dialysis or kidney transplant: When the disease reaches advanced stages, the kidneys may completely stop functioning, and a person would need either dialysis or a kidney transplant.