Understanding gene therapy for polycystic kidney disease
February 15,2023
Because of its nature of being passed on in the family, the treatment of gene therapy to introduce new normal cells by replacing defective or missing ones is very effective. The burden of kidney disorders is as large as 10% globally, and the cases in India are rapidly rising. In the case of polycystic kidney disease, most people do not realize their condition because of a lack of symptoms. By the time they realize complications, the disease already progresses and reaches stage 2 or 3 which is enough to leave a long-lasting and severe impact. Polycystic kidney disease occurs when small fluid-filled sacs/ cysts start developing in the kidney. They are non-cancerous and do not show many symptoms until they are about half an inch in size. The disease can be managed and treated when diagnosed on time in the absence of which it can cause the spread of cysts in the other organs such as the liver and cause kidney failure and other complications. This progressive disease is mostly inherited. Children with one or both parents with this condition are very likely to develop the condition as well. The symptoms can start in childhood but the disease is more commonly developed in later stages of adulthood, around the age of 30 to 40 years. Sometimes it is known to develop on its own due to other severe kidney disorders and is known as acquired cystic kidney disease. Because of its nature of being passed on in the family, the treatment of gene therapy to introduce new normal cells by replacing defective or missing ones is very effective. Till now, the treatments for polycystic kidney disease involved shrinking the cysts by injecting a strong solution into the cyst using a long needle. The cyst is then drained and reduced. Surgery to remove the cysts is another option that is being used along with medications to reduce its common symptoms of abdomen pain, blood in urination, headaches, fatigue, joint pain, pale skin, etc. When the condition becomes extremely worse, dialysis can be used to support some of the kidney functions, or in extremely bad cases a kidney transplant may be required. All of these treatments can be avoided if the diagnosis is done on time and procedures like gene therapy can be performed to eliminate the disease from its root cause. The disease is known to be caused by mutations of the Polycystic Kidney Disease 1 (PKD1) and Polycystic Kidney Disease 2 (PKD2) genes. If through gene therapy a region of code is added to reduce the degradation and control the protein formation in kidneys, then this can block the progression of the disease. The prevention and treatment of disease are the key goals in any case of polycystic kidney disease. As previously mentioned, many people including youth are unaware of their condition until it becomes unmanageable. Therefore, they must get diagnosed regularly even if their bodies do not show any active symptoms. It can be diagnosed by doing an abdominal ultrasound, CTI, or MRI scan.
Vijaylaxmi J 
Er. Santosh Rastogi