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Polycystic Kidney Disease (APDKD)- Symptoms, Causes and Treatment

25 September, 2020 Riya Vaja

Autosomal dominant polycystic (Polly-sis-tick) kidney disease is an inherited chronic disorder wherein clusters of cysts develop inside your kidneys. These cysts are usually noncancerous round sacs containing fluid. They enlarge your kidneys and make them lose function over time.

They may vary in size but a large number of cysts present in the kidneys can possibly lead to kidney failure and other serious health complications.  

APDKD is the most common form of polycystic kidney disease (PKD). It accounts for up to 2 in every 100 cases of kidney failure each year. Healthcare providers usually name this condition to be ''adult PKD'', because it is usually diagnosed between the ages of 30 and 50. The term ''autosomal dominant'' before PKD denoted APDKD to be the result of a genetic mutation or defect. 

How do I know if I have APDKD?

The signs and symptoms of APDKD are fairly visible even before your birth. Yes. Since APDKD is a genetic disease, pregnant women and doctors can detect the defect by using ultrasounds which shows that the baby's kidneys are larger than they should be.

Another possible sign could be the lack of amniotic fluid in the womb that surrounds and protects the baby inside the womb. A baby's kidney is responsible to make this fluid in the middle or late months of pregnancy. Having the kidneys damaged can lead to its deficiency.

Other signs & symptoms of the disease and birth include:

  • Blood in the urine
  • Headache
  • High blood pressure
  • Kidney stones
  • Swollen or increased belly
  • Respiratory problems
  • Back and side aches  

Although the symptoms of APDKD can appear at any age, they usually start in the late 40s or 50s. If left untreated, they can impose a serious threat on the person's health.

What are the causes?

In most cases, APDKD proves to be a genetic condition. It is a problem associated with a specific gene that is inherited from the parent who also has the disease. Researchers have found two genes that cause APDKD i.e., the PKD1 gene and the PKD2 gene. 

3MEDS, the best healthcare provider in India, considers a 50% chance in babies to inherit the condition if either of the parents is suffering from APDKD. This genetic issue can happen on its own as well with neither of the parent being diagnosed with it. This happens 1 in every 10 cases of ADPKD.

Complications

Your body's systems are interconnected, and therefore a failure in one system can significantly hinder the functioning of other systems as well. These complications may vary from person-to-person depending on their health status:

  • Abnormal heart valves
  • Brain aneurysms
  • Liver and pancreatic cysts
  • Urinary tract infections (UTIs)
  • Reproductive problems
  • Kidney failure
  • Kidney stones

Diagnosis of APDKD

Healthcare providers may use either imaging tests or genetic testing to diagnose this condition in a person. The final diagnosis is based on your test results, age, family history of PKD, and the number and size of the cysts.

Imaging tests

Ultrasound: The doctor may use a device called a transducer that rebounds safe and painless sound waves off your organs to create an image of its structure. Those images can similarly show the presence of cysts in the kidney.

Computed Tomography (CT) Scans: CT scan requires you to lie on the table that slides into a tunnel-shaped device that processes your x-rays using computer technology. They usually show more accurate structure images than an ultrasound technique.

Magnetic resonance imaging (MRI): It is a machine that is used to build detailed pictures of your body's externally invisible organs. MRI techniques measure the kidney and cyst size and also allow the doctor to monitor their growth.

Genetic testing

You may be referred to a geneticist, an expert in the matters relating to the genes and diseases that are passed down through families. The geneticist may further take your blood or saliva sample that will be tested for gene mutations. 

Treatment of APDKD

Although no treatment can completely cure APDKD, the doctor may give you tolvaptan (Jynarque), which is the only drug that can possibly treat the disease. It helps slow the growth of cysts and preserves the kidney functions in the body. However, it may cause certain side-effects such as making large amounts of urine, increased thirst, and peeing a lot.

Moreover, there are treatments to cure various symptoms and complications of APDKD. You can also order pain medications online like acetaminophen, opioids, and antidepressants that will facilitate an easy everyday life functioning.

Note: Opioids can be addictive and is used only for chronic pain. Consult a doctor before using it.

Conclusion

The best way to prevent APDKD is to keep your kidney health good. One of the most important steps towards keeping your kidney healthy would be to maintain normal blood pressure levels. You can do this by following a low-salt diet, exercising regularly, limiting alcohol consumption, and taking medications suggested by the doctors.

People with APDKD generally live full and active lives if treated early, but various other factors like the overall health, complications you develop, your honesty with the treatment plan, and the specific genetic mutations also impact the life expectancy of a person with the disease.