What is polycystic kidney disease? Symptoms and Treatment

Polycystic kidney disease is an inherited disorder in which groups of cysts develop within the kidneys. It is the most common genetic threat, since affects more than 12.5 million patients worldwide. According to information from National Center for Biotechnology Information, its global prevalence is 10 per 10,000.

In particular, this genetic defect leads to the massive formation of cysts in the kidneys, which translates into a reduction in blood flow to these organs and a healing process, as well as possible bleeding and infections. Do you want to know more about it? Keep reading!

Polycystic kidney disease: what does it consist of?

First of all, it is necessary to emphasize that this disease is the product of a hereditary genetic defect. It occurs in humans and other animals, and it is characterized by the appearance of cysts in both kidneys. Studies estimate that there is one carrier of the disease gene for every 800 individuals in the world.

The gene involved is often PKHD1 (6p12.2-3), encoding the protein fibrocystin, a structural biomolecule of great importance for the maintenance of organs such as the liver and kidneys. Mutations have also been discovered in the DZIP1L (3q22.3) gene, related to ciliary structures.

It is estimated that 85% of patients have mutations in the PKHD1 gene, but there are other rarer variants, with abnormalities in the PKHD2 and PKHD3 segments.

Polycystic kidney disease occurs from an inherited genetic defect.

To know more: Kidneys: how they work

What are your causes?

The cause is the mutation in specific genes, that are inherited from parents to children. As shown in the American Kidney Fund, there are two variants of the disease. These can be summarized in the following lines:

  1. Autosomal dominant: In this variant, the clinical signs of the disease begin to develop from 30-40 years of age. From the age of 60, they begin to be more serious. Only one of the two parents needs to have the disease to be able to transmit it to their children, with a probability of 50%.
  2. Autosomal recessive: a much more rare, serious and lethal form. The signs usually appear shortly after birth, and both parents have to be carriers in order to transmit the disease to their children. Although this is the case, the probability of inheritance in the offspring is 25%.

Symptoms of polycystic kidney disease

As the affected organs are the kidneys, most of the clinical signs will have to do with this area of ​​the back and urine. However, according to the MSD manual, approximately 1/3 of patients with dominant polycystic kidney disease also show cysts in the liver, although these do not affect liver function.

As we have said, in the dominant form the signs appear after the third decade of life and worsen over time. Among them, we find the following:

  • Abdominal pain or tenderness
  • Blood in the urine and excessive urination at night. Repeated urinary tract infections are also favored.
  • Back, side and head pain.
  • Drowsiness.
  • Joint pain
  • Nail abnormalities.
  • Severe pain (colic) caused by kidney stones.

The recessive form manifests itself aggressively in childhood, as the liver and lungs can be affected during fetal development, among other structures.

A newborn child with a severe form of polycystic disease usually dies within a few days of birth.


Up to 80% of dominant cases they can be diagnosed by imaging methods before age 20. By means of ultrasounds, MRIs and CT scans, images of the kidneys can be observed, which show the presence of cysts.

Other signs to look for in patients are high blood pressure, liver enlargement, kidney masses, and abdominal tenderness to touch. In other cases, blood counts, liver tests, and urinalysis may be required to complete the diagnosis 100%.

Imaging tests are often suggested to detect the presence of cysts in the kidneys.

Available treatments

According to information from the Mayo Clinic, the severity of polycystic kidney disease is entirely up to the individual patient, it varies even among members of the same family. In many cases, the terminal stage is reached at 55-65 years of age, but on other occasions the variant is mild and the serious stages are not reached.

Depending on whether it is autosomal or recessive, and the stage of the disease to be addressed, different treatments may be required. Among them, we find the following:

  1. Prevention for the appearance of renal cyst (tolvaptan): this drug is prescribed to people with a fast growing dominant strain. This medicine slows the growth rate of kidney cysts, but it can cause serious liver damage.
  2. Management of infections: kidney infections occur more in patients with PKD. Therefore, it is necessary to monitor the individual and prescribe the appropriate antibiotics before the kidneys suffer further damage.
  3. Control of high blood pressure: hypertension is a consequence of PKD, so controlling it with drugs and damage to the diet can slow the development of cysts.
  4. Control blood in urine: It is essential to drink plenty of fluids as soon as blood begins to show in the urine, as this dilutes the urine and prevents clots from forming.
  5. Address kidney failure: When the kidney can no longer function on its own, dialysis and even transplants are required.
  6. Pain management: From drugs to injections and surgeries, you can try to decrease the burden of cysts in the kidneys to decrease the patient's pain.

As obvious as it may seem, lifestyle can also help delay the terminal phase of PKD. Not being overweight or obese, giving up alcohol, maintaining a healthy diet and not smoking will greatly facilitate the work of the kidneys, which already have reduced functionality due to the disease.

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Prognosis of polycystic kidney disease

The recessive variant is much more aggressive and deadly. If there is respiratory distress in the infant due to pulmonary involvement, the mortality rate can rise up to 40% of patients at birth. 50% of surviving babies will develop a terminal variant in their first decade of life.

On the other hand, dominant polycystic disease usually progresses to a terminal phase at approximately 65 years of age. The Spanish Society of Internal Medicine (SEMI) does not dare to give a specific figure in terms of prognosis, since everything depends on the severity of the condition and previous prevention.

Unfortunately, there is no cure for polycystic kidney disease. The approach consists of alleviating the symptoms and avoiding the degradation of the kidneys as much as possible, although this will surely come sooner or later. Hopefully, with current research, more effective long-term approaches will be found.

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