Overview

Polycystic kidney disease (PKD) is a genetic disorder characterised by the growth of numerous fluid-filled cysts in the kidneys. Over time, these cysts can enlarge and impair kidney function, leading to various complications. PKD can be autosomal dominant or autosomal recessive, with varying degrees of severity. People suffering from PKD usually develop symptoms in adulthood, such as high blood pressure, blood in the urine, enlarged kidney size and many more. The cysts that form in the kidneys interfere with their normal functions. Over time, the cysts can damage the kidneys, and the condition may progress to kidney failure, which requires ongoing dialysis or a transplant. So the person with PKD should see a doctor right away.

Symptoms of Polycystic Kidney Disease

Generally, symptoms occur as the cyst grows. The most common symptoms of polycystic kidney disease include:

- - Frequent Urination
  - Abdominal Pain or Discomfort
  - High blood pressure
  - Fatigue
  - Extreme back or side pain
  - Blood during urination
  - A feeling of fullness in your abdomen
  - Enlarged kidneys
  - Joint pain
  - Kidney stone formation
  - Urinary tract infection
  - Kidney failure

Causes of polycystic kidney disease

Polycystic kidney disease is an inherited disease caused by abnormal genes. Because of its genetic abnormalities, there are two types, each with different causes.

Autosomal dominant polycystic kidney disease (ADPKD)

People with ADPKD are born with cysts in their kidneys but often do not experience symptoms until 30 to 40. Only one parent gene is responsible for the cause of ADPKD. This is the most common form, caused by a PKD1 or PKD2 gene mutation. It follows an autosomal dominant inheritance, meaning that if one parent has the mutated gene, there is a 50% chance of passing it on to each child.

Autosomal recessive polycystic kidney disease (ARPKD)

In this type of PKD, both parents' genes are responsible for causing ARPKD. Mutations in the PKHD1 gene cause this rare form of disease. It follows an autosomal recessive inheritance, meaning both parents must carry the mutated gene to have an affected child and the probability of having an affected cold id 25%. Also, this is a rare disease with 1 in 400 children born with this.

Diagnosis of Polycystic Kidney Disease

The disease can also lead to other problems, including high blood pressure and the formation of cysts in other organs, such as the liver. So it is vital to detect the disease early to start treatment at an early stage.

To diagnose PKD, doctors perform a few tests. Let's get to know about them. The doctor may ask the patient for information about their family history of kidney disease, as PKD tends to run in families.

- Ultrasound- This non-invasive imaging test uses sound waves to create images of the kidneys. It can detect the presence of cysts and their size.
- CT scan or MRI- These imaging techniques provide more detailed images of the kidneys, helping to confirm the presence of cysts and evaluate their characteristics.
- Genetic testing- In cases where the diagnosis is uncertain or to confirm the specific genetic mutation involved, genetic testing can be conducted. This may involve analysing blood or saliva samples to identify PKD1, PKD2, or PKHD1 gene mutations.
- Kidney function tests- Blood and urine tests may be performed to assess kidney function, including measuring levels of creatinine, blood urea nitrogen (BUN), and urine protein.
- Intravenous pyelogram (IVP) - This test helps doctors detect kidney problems such as cyst formation in the urinary tract, kidney stones and prostate size. In this test, doctors inject a special X-ray dye into the veins. The dye reaches parts of the kidneys and other organs such as the ureters and bladder, reflecting their structures and condition. With this test, the doctors assess the patient's condition.

Treatment Option for Polycystic Kidney Disease

The treatment options include medications and surgery to treat kidney diseases.

Medications - Doctors prescribe medications to control the factors responsible for the cause of polycystic kidney disease (PKD). These medications include:

- Painkillers such as ibuprofen
- Antibiotics to cure urinary tract infections (UTIs)
- Medicines to control high blood pressure
- Apart from medications, doctors also prescribed a low-sodium or salt diet.

Tolvaptan therapy - In this treatment, the doctor recommends the tolvaptan pill, which reduces or slows down kidney cyst growth.

Surgical procedures - These procedures are recommended to shrink cysts or remove them altogether. If the condition worsens, patients may need dialysis or a kidney transplant.

When to consult a Doctor

You can also get in touch with the expert Nephrology doctors at Narayana Healthcare based in your city to get immediate attention and medical support during injuries, health disorders or any other health concern.

Conclusion

PKD is a genetic disorder that affects the kidneys and can lead to kidney failure if left untreated. While there is no cure for PKD, treatments are available to manage the symptoms and slow the progression of the disease. It is important to understand the causes, symptoms, and treatment options for PKD to manage this condition effectively.

References

- https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/symptoms-causes/syc-20352820
- https://www.healthline.com/health/polycystic-kidney-disease#coping
- https://www.mayoclinic.org/diseases-conditions/polycystic-kidney-disease/diagnosis-treatment/drc-20352825