When it comes to genetic disorders, gene mutations are the first reason that comes to mind. Gene mutation is the alteration in the coding of a gene. To define it deeply when there is an alteration in the nitrogenous bases of the specific region of the DNA that encodes for a specific protein, a gene is said to be mutated. Mutations in genes can have adverse effects on the body. Polycystic kidney disease is one of the genetic disorders in which there is an alteration in the PKD1 or PKD2 gene of the DNA. In this blog, we will try to understand the mechanism of cyst development on the kidney along with other important topics such as its causes, types, symptoms, diagnosis, and treatment in order to have an explained understanding of this disease.
What is polycystic kidney disease?
A kidney cyst appears as a sac of fluid on the surface of the kidney. When several cysts like this accumulate on the surface of the kidney, they interfere with normal renal function. This can develop into severe kidney diseases such as kidney failure. Apart from this, PKD can have significant impacts on other organs such as the liver in which these noncancerous cysts spread to other vital organs of the body
Causes of PKD
This topic of PKD disease is very dominant in today’s research era, but the research for it is still not in concrete form. What scientists are really trying to understand is the action of proteins that are produced due to the expression of those genes which are involved in the development of PKD. These proteins collectively contribute to the structure and function of the kidney, but the exact functionality of these proteins is not completely understood. One thing common in these proteins is that they act as signal transporters which are in the chemical form. These signals are to be transported from the outside of the cell to the nucleus.
Types of Polycystic kidney disease
As PKD is a genetic disease, the categorization of this disease is done based on the type of chromosome on which the gene is mutated causing PKD.
- ADPKD: This acronym stands for Autosomal dominant polycystic kidney disease. As the name suggests when the dominant chromosome is affected due to the mutation in PKD1 or PKD2 genes, it is known as ADPKD. This means if one of the parents is suffering from ADPK, there is a 50% chance that their child will also get polycystic kidney disease
- ARPKD: Autosomal Recessive polycystic kidney disease occurs when the mutation of PKD1 and PKD2 happens to be on the recessive chromosome. The inheritance of this type of PKD from parent to offspring will only occur when both the parents are the carries of PKD. Naturally, this type of PKD is not common in the general population.
Complications in the kidney due to PKD
- Kidney enlargement: As there is only limited space in your abdomen, so when your kidney gets enlarged, it goes down into your abdomen causing variety of symptoms
- UTI: Kidneys are the upper part of your urinary tract, so due to PKD whole urinary tract gets infected
- Loss of function: Kidney cysts interrupt with the filtration process of your kidneys. Thus, PKD results in kidney failure. Also, kidney plays an important role in the management of blood pressure. Due to PKD, this functionality of kidney gets disrupted causing in the development of hypertension
- Hematuria: As the cysts have fragile veins in them, they get easily withered. This causes bleeding and thus resulting in Hematuria
- End stage renal disease
Complications other than in kidney due to PKD
- Liver cyst: In women suffering from PKD, chances of development of cyst in liver always remain more. The reason for this is disturbance in the hormones as kidney plays vital roles in managing hormones.
- Intracranial aneurysms: On average 7% of the PKD patients suffer from this condition
- Pancreatic cysts: 36% of the PKD patient get their pancreas involved too in cystic formation
- Cardiac events: events such as valvopathy and hypertension occur in PKD patients
The general symptoms of polycystic kidney disease are as follows:
- Chronic flank pain
- Renal impairment
- Urinary tract infection
- Persistent feeling for fullness
Diagnosis of PKD
Kidney cysts are diagnosed mainly by a simple ultrasound. The reason for this is that ultrasounds are the least expensive imaging test, there are no radiations involved, and are widely available. Ultrasound findings are to be based on three criteria:
- If the patient has a family history of PKD
- Age of the patients
- Number of cysts on the kidney
How is PKD managed
- There is not a completely curable treatment of polycystic kidney disease till now but recently a drug named Tolvaptan received an approval from FDA as a treatment option for PKD. The efficacy of this drug is significant but not 100%. Also the success rate of this drug depends upon the severity of the condition of PKD.
- Apart from this there are ongoing clinical trials of the treatment plans for PKD.
How to manage polycystic kidney disease?
- Keep yourself hydrated
- Regulate your blood pressure
- Reduce the intake of salt
- Switch to plant-based protein
- Avoid drugs such as:
- IV contrast
The best way to manage your polycystic kidney disease is to find an experienced nephrologist a team who is truly knowledgeable about PKD. The only thing that will really heal to reduce the damage due to this disease is a team approach. (Poetry)
At Alfa Kidney care you will certainly get the best team approach to managing your condition with full efficiency.