Understanding and Managing Genetic Kidney Cysts: Polycystic Kidney Disease

Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the presence of cysts in the kidneys. These cysts can grow to large sizes and cause significant health issues, including kidney failure. This article explores the nature of genetic kidney cysts, their symptoms, treatment options, and management strategies for individuals affected by this condition.

What are Genetic Kidney Cysts?

Genetic kidney cysts refer to the growth of numerous cysts in the kidneys. These cysts are caused by genetic mutations and cannot be cured. The disease is known as Polycystic Kidney Disease (PKD).

Types of Polycystic Kidney Disease

Polycystic Kidney Disease primarily presents in two forms: recessive and dominant. The dominant form of PKD is the more common variant and is passed down from one parent. It can also result from genetic mutations that lead to a deficiency in the protein cystein on chromosome 16.

There are three subtypes of the dominant form of PKD:

Early onset failure: Cysts develop and cause kidney failure before the age of 60. Mid to later age onset failure: Kidney function deteriorates between the ages of 60 and 80. No onset, no failure: This subtype does not present overt symptoms and does not progress to kidney failure.

Managing Symptomatic Cysts

While there is no cure for genetic kidney cysts, larger, painful cysts can be managed through various methods. One common approach is the aspiration of cysts, which involves removing the fluid inside the cysts to alleviate pain and discomfort. This procedure helps in managing symptoms but does not address the underlying disease.

Impact on the Kidneys

The cysts in PKD can grow to remarkably large sizes and can eventually replace the normal renal tissue. This replacement leads to a decline in kidney function, potentially resulting in end-stage renal disease and kidney failure. As the cysts grow, they can cause significant physical discomfort and other health issues.

Personal Experience with PKD

I am fortunate to have experienced the progression of PKD at a middle age onset. One of my kidneys was significantly enlarged, reaching a weight of 20 pounds, and had to be surgically removed due to its size. The other kidney failed eventually, leaving me with kidney failure by the age of 42. Facing the reality of kidney failure, I had to undergo dialysis for several years.

At the age of 44, I received a kidney transplant from a living donor, which is a common option for PKD patients. Although the transplant provided temporary relief and improved my quality of life, the success of the transplant was not as long-lasting as I hoped. After 12 years, my transplant had to be removed due to complications, and I have been on dialysis again for the past five years.

Conclusion

Polycystic Kidney Disease is a serious health condition that affects kidney function due to the presence of numerous cysts. Although there is no cure for the disease, various treatments can help manage symptoms and improve quality of life. Understanding the different forms of PKD, the impact on the kidneys, and personal experiences can offer valuable insights for those living with this condition.

Keywords: Genetic Kidney Cysts, Polycystic Kidney Disease, Recessive and Dominant Forms