Polycystic kidney disease (PKD) is a genetic disorder which is described as the formation of cysts primarily in the kidneys, causing them to become enlarged and eventually lose function. These cysts are abnormal, non-cancerous sacs that contain fluid but vary greatly in size and grow extremely large causing severe complications including chronic kidney disease that can result in kidney failure or end-stage renal disease (ESRD). Moreover, in case the cysts multiply in number, it can get complicated; these cysts also can cause acute pain and also become infected in some cases.

Polycystic kidney disease also causes cysts to develop in the liver or anywhere else in the body leading to intense problems including high blood pressure. PKD varies greatly in its size and severity, thus its symptoms and overall complications can be managed and prevented through lifestyle amendments and medical treatment.

Symptoms of Polycystic Kidney Disease

As mentioned, the intensity and size of the polycystic kidney disease vary greatly which implies that it has different symptoms per case. However, some of the common symptoms of PKD include:

  • High blood pressure
  • Acute back pain
  • An intense pain on the sides
  • Headache
  • Abnormal feeling of fullness in the abdomen
  • Blood in the urine
  • Kidney stones
  • Enlarged abdomen
  • Urinary tract infections (UTI)
  • Kidney infection
  • Kidney failure

It is very common for people to live with the disease without experiencing any symptoms until an advanced stage. Regular screenings can help identify the problem in the earlier stages; moreover, if a first-degree relative such as parents or siblings has been diagnosed with PKD, it is a good precaution to get regular check-ups to keep the condition monitored.

Causes of Polycystic Kidney Disease

Polycystic kidney disease is a result of abnormal genes which implies that the disease runs in the family. In very rare cases, a person develops genetic mutations simultaneously, without any parent being affected in the first place.

Fundamentally, there are two types of polycystic kidney diseases, namely:

Autosomal dominant polycystic kidney disease (ADPKD): This type of PKD usually develops after 30 to 40 years of age. In earlier times, this type of polycystic kidney disease was called the adult PKD, though even children can be affected by this type, if even one parent has the disease. As per research, even if one parent has polycystic kidney disease, there are 50 per cent chances of a child being affected by the disease in the future. This is one of the most common types of PKD.

Autosomal recessive polycystic kidney disease (ARPKD): This is a more uncommon form of polycystic kidney disorder where symptoms of the problem develop soon after birth, though in some case, the symptoms can come later in childhood or during early adolescence. For a person to be affected by this form of PKD, both the parents should have the disease to pass it on to the child. 

Diagnosis of Polycystic Kidney Disease

To diagnose polycystic kidney disease, the doctor conducts some tests to examine the size and the number of cysts on the kidneys, as compared to the overall healthy tissue. Some tests that will help the diagnosis include:

Ultrasound: In this test, a transducer is used to emit strong sound waves which are reflected in the transducer like sonar and appear in the form of kidneys images.

CT scan: A CT scan uses X-ray beams to provide cross-sectional images of the kidneys.

MRI Scan: This requires a person to lie inside a huge cylinder-shaped, magnetic field which generates radio waves to provide a cross-sectional view of the kidney.

Treatment of Polycystic Kidney Disease

Generally, there is no definitive treatment for both types of polycystic kidney disease. The treatment of Polycystic Kidney Disease requires managing symptoms and signs of the below problems and complications during their initial stages:

High Blood Pressure: To reduce the risk of being affected by PKD or controlling the symptoms of the problem, it is important to manage the blood pressure actively. Healthy blood pressure can delay the disease and also stop its progression, further reducing the chances of kidney damage. Some steps that can help with high blood pressure management include:

  • No smoking
  • Limited alcohol
  • Physical activity
  • Low-fat, moderate-protein and low-calorie diet
  • Reducing the overall sodium intake

However, medications can also be used to control blood pressure

Bladder or Kidney Infections: To delay or control the polycystic kidney disease, it is important to be wary of bladder or kidney infections, and treat them antibiotics as soon as they occur.

Blood in Urine: This symptom is managed by consuming lots of fluids, preferably water which will help dilute the blood in the urine. Dilution will help to eliminate the risk of development of obstructive clots in the urinary tract.

Kidney Failure: If a person with a polycystic kidney disease loses functioning of the kidneys, he/she would require consistent dialysis or a kidney transplant.

Aneurysms: In case a patient has a polycystic kidney problem accompanied by a family history of ruptured brain (intracranial) aneurysms, he/she will require a regular assessment of intracranial aneurysms. In case, a person develops an aneurysm, immediate medical help will be required to clip the aneurysm to prevent bleeding, though the type of treatment – surgical or non-surgical – will depend on the size of the aneurysm.

Polycystic kidney disease is a fairly common medical problem which has no definite cure but manageable symptoms if detected early on. In stages of progression, the disease can cause severe health complications including pregnancy complications, cysts in liver, aneurysm in the brain, heart valve abnormalities, and colon problems, among others.