Polycystic Kidney Disease: Symptoms and treatment

Polycystic Kidney Disease is the genetic disorder of the kidneys. It is seen in humans and also some other animals. It is characteristically seen in both the kidneys. It is characterized by presence of cysts filled with fluid which results in enlargement of the kidney. It can also damage the other organs like the liver, pancreas, sometimes in brain and heart also. It is considered as the one of the life threatening disorders among all the genetic disorders.


Polycystic Kidney Disease is of two types:

  • Autosomal Dominant
  • Autosomal Recessive

Autosomal Dominant:

It is the most common inherited disorder caused in kidneys. The symptoms of Autosomal Dominant Polycystic Kidney Disease are developed between ages of 30 to 40 but are sometimes also seen in childhood. It comprises about 90% of all the Polycystic Kidney Disease. It is characterized by progressive cyst development and increase in size of both the kidneys. Kidneys are seen with multiple numbers of cysts. The genes responsible for this Autosomal Dominant Polycystic Kidney Disease are PKD-1, PKD-2 and PKD-3. PKD-1 gene is responsible for encoding proteins responsible for regulation of cell cycle and intracellular calcium transport in epithelial cells. PKD-2 gene is responsible for encoding proteins which act as voltage linked calcium channels. PKD-3 is left unproven as of now. Mutations in these three genes are responsible for the development of this disease. The cyst development begins from the nephrons which accumulates fluid, enlarges, gets separated from the nephron and compresses the adjoining renal parenchyma as well as depress the renal function. In fully developed autosomal dominant disorder, the cyst filled kidney weighs 20-30 pounds and cause hypertension.

Autosomal Recessive:

The incidence is 1 in 20 thousand live births. It is diagnosed in first few weeks after birth and the hypoplasia caused by Autosomal recessive Polycystic Kidney Disease in 30% cases results in death of the neonate. In this disease the kidneys retain the shape but they are larger than the normal anatomical structure with dilated collecting ducts.


There is abdominal discomfort, urinary tract infections specifically in the kidney cysts. The patient also presents wit loss of blood in urine called hematuria. It also affects the liver and pancreas causing liver and pancreatic cysts. It can lead to development of abnormal heart valves, High blood pressure and Kidney stones. It can severely cause aneurysms in the blood vessels in the brain and also small pouches may bulge out through colon called diverticulosis. In autosomal recessive Polycystic Kidney disease it causes frequent urination, affects the liver and the spleen causing decrease in the blood cell count, high blood pressure, varicose veins and hemorrhoids in children. The urinary tract infection is followed by fever, chills and pain. Approximately 50% people develop end stage disease as the consequence of Polycystic Kidney Disease.


Polycystic Kidney disease is diagnosed with renal ultrasonography with positive family history. Two or more cysts in both are mandatory for the procedure of diagnosis. Before the age of 30 years computerized tomography and Magnetic resonance imaging is performed.


Pain in the area of kidneys may be caused due to cyst infection, bleeding into cysts, kidney stone, and stretching of the tissue around the kidney. Physician has to assign first the cause of the pain among the conditions stated above and then prescribe the medication. Over-the-counter pain killers are prescribed like aspirin or acetaminophen. Surgery to shrink the cysts can relieve pain but is not helpful in long term as it may develop into further complications. Urinary tract infections are treated by antibiotics like cotrimoxazole and quinolone. High blood pressure is treated with antihypertensive medications and changing the lifestyle. If Polycystic Kidney Disease progresses further to develop end stage kidney disease, dialysis and implantation are a must for the survival of the patient. Sometimes in recessive disorder growth hormones are used and if it affects the liver, liver transplantation has to be done.

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