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Polycystic Kidney Disease - an incurable renal condition

posted on 8/29/2018 Facebook Facebook

Polycystic Kidney Disease (PKD) is a genetic disorder, mainly affects kidney by formation of cyst filled with fluid which interrupts the basic function to filter waste products from blood. Growth of kidney enlarges with increased cyst formation ending up with a kidney failure or End Stage Renal Disease (ESRD).  Liver is the second organ that is affected with progression in disease resulting in multiple fluid filed cyst with enlarged abdomen. 

There are two types of PKD: autosomal dominant PKD and autosomal recessive PKD. Autosomal dominant PKD causes cysts only in the kidneys. It is often called “adult PKD,” because people with this type of PKD might not notice any symptoms until they are between 30 and 50 years old. Autosomal recessive PKD causes cysts to grow in both the kidneys and the liver. Autosomal recessive PKD is often called infantile PKD because babies can show signs of the disease in their first few months of life, or even before they are born.

Cause of PKD is genetic, if your family members have PKD you are likely to carry that faulty genes.  PKD is not gender biased, affects males and females equally. If you carry genes with PKD without symptoms of disease you are a carrier, generally observed in cases of autosomal recessive PKD.  Mutations in PKD1 and PKD2 cause autosomal dominant PKD; and PKHD1 gene cause autosomal recessive PKD. This is different from condition – acquired cystic kidney disease which occurs in patient with chronic kidney disease or renal failure.

Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging in a large blood vessel. 

It is an incurable condition; fluid management is done with multiple drugs as well as dialysis leaving you with transplant as the only option to improve survival. Also, being genetic by nature PKD cannot be prevented, the only thing helps is making your kidneys work longer by following a strict diet and healthy routine.  Individuals having family members suffering from PKD should undergo a genetic screening at an earliest to act upon the situation before time.

By: Ruchi Bhajeewala, Genetic Counselor, Positive Bioscience

Disclaimer: The opinions expressed in this blog are representative of the author and may not express the views of Positive Bioscience. This blog is intended for education and information for the general public. Before making any medical decisions a medical professional must be consulted. All rights reserved.

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