Polycystic kidney disease is a medical condition in which there is a formation of a fluid-filled cyst in the kidney. This disease can be passed on from parents to their children, and it also impairs the functions of the kidney. This is a genetic disease that usually starts even before the baby is born, till the individual attains adulthood. The size of the cysts might vary in person to person. Genetics has been identified as one of the main causes of this disease. It occurs when there is a mutation of some genes. These mutated genes lead to the production of some abnormal proteins, which also alters the process of renal tubule development. Studies have shown that there are two main types of polycystic kidney disease. These are autosomal dominant polycystic kidney disease, and recessive polycystic kidney disease. Research has also shown that the cysts might develop in any cells of the liver. These include the liver, pancreas and so on. Polycystic kidney disease can also lead to the development of conditions like an aortic aneurysm, which might rupture, and causes subarachnoid hemorrhage. Physicians diagnose this disease by evaluating the signs and symptoms of the disease and also performing the physical examination of the patient, kidney function test, and the computer tomography test. This disease is also associated with a lot of complications. Some of them include an aortic aneurysm, infection, impaired renal function, hypertension, urinary bleeding, and so on. Physicians treat hypertension, by administering anti-hypertensive, and the impaired renal function is also treated by carrying out dialysis, or renal transplantation on the patient. Research is also ongoing, on how shockwave therapy can be beneficial for the treatment of this disease.
What Are the Early Signs of Polycystic Kidney Disease?
Patients affected by polycystic ovarian disease presents with various signs. Below are some of the early signs of the disease;
- Abdominal pain: Patients affected by this disease tend to complain of some discomfort, especially in their abdomen. This might also be accompanied with the tenderness of the abdomen.
- Regular urination: One of the early signs of this disease is that persons affected would urinate more often than normal. They visit the restroom multiple times a day.
- Hematuria: This is a condition in which an individual has blood in his/her urine. It’s important to consult a physician if you notice blood in your urine for proper evaluation and diagnosis.
- Kidney stone: Patients affected with this disease have a high risk of developing renal stones. This could lead also lead to pain in the abdomen, that migrates to the groin region.
- Tiredness: Patients affected with this disease tend to get tired, after performing engaging in some little physical activity. They usually can’t explain why they are tired. This is one of the initial signs of the disease.
- Pain in the joints: Patients might also present with joint pain, even without putting stress on the particular joint. This is one of the uncommon signs of polycystic kidney disease.
- Bruised skin: Patients might also notice that their skin bruises easily. They are usually more prone to developing injuries, especially on their skin.
- Urinary tract infection
When Is It Important to Consult a Physician?
There a lot of cases where an individual would have this disease and not know for many years. This is because this disease can remain asymptomatic for many years. It’s best to consult a physician for a regular medical checkup if you have a family history of polycystic kidney disease. In addition, you should also visit a doctor if you present with some of the signs listed above.
What Are the Causes of Polycystic Kidney Disease?
Genetics have been identified to be one of the most common causes of this disease. People with a family history of polycystic kidney disease, have a high risk of also developing the disease. There are two main forms of this disease;
- Autosomal dominant polycystic kidney disease: This type of the disease tends to occur in people between the ages of 30 and 40. To inherit this disease, only one parent needs to have the disease. This is because of the dominant inheritance.
- Autosomal recessive polycystic kidney disease: This type of polycystic kidney disease is less prominent, as compared to the dominant polycystic kidney disease. It mostly occurs in children, and in adolescence. The two parents must have this disease, to be able to pass it on to their children.
What Are the Complications of Polycystic Kidney Disease?
There are many complications associated with this condition. Below are some of the common ones;
- High blood pressure: This is one of the most prominent complications of the disease. This complication, if not well managed, can lead to other conditions such as the damage to the kidneys. In addition, there is an increased risk for cardiovascular diseases.
- Pregnancy complications: This disease usually doesn’t cause problems for women. However, there have been cases where the affected women developed pre-eclampsia.
- Development of cysts in the liver: Patient might also experience the growth of cysts in their liver. The risk of this happening increases with age. Studies have shown that the estrogen plays a role in the formation of cysts.
- An aortic aneurysm: This is a condition in which there is a development of a balloon-like bulge on the blood vessels. This mostly occurs in the aorta. This aneurysm can eventually rupture, if not well managed, and lead to hemorrhage. Also, people with a history of an aortic aneurysm should go for a regular medical checkup.
- Pain: Patients affected with this disease tend to experience a lot of pain. This pain usually occurs in the abdomen, before spreading to the groin area.
How Is Polycystic Kidney Disease Diagnosed?
Physicians diagnose this disease based on the complaints and the symptoms of the patient. In addition, they also carry out test such as ultrasound, CT and MRI scans to exclude and confirm the disease.
How Is the Disease Treated?
Physicians treat hypertension, by administering anti-hypertensive, and the impaired renal function is also treated by carrying out dialysis, or renal transplantation on the patient.
Bible, E. (2013). Periostin is involved in cell proliferation and interstitial fibrosis in polycystic kidney disease. Nature Reviews Nephrology, 10(2), pp.66-66.
McDonald, S. and Rangan, G. (2014). Progression of polycystic kidney disease—a lack of progress?. Nature Reviews Nephrology, 10(9), pp.489-491.
Pei, Y. and Watnick, T. (2010). Autosomal Dominant Polycystic Kidney Disease. Advances in Chronic Kidney Disease, 17(2), pp.115-117.