SM Clinic

Polycystic kidney syndrome: what is important to know?

Polycystic kidney syndrome is called a congenital bilateral transformation of the kidney tissue, which leads to a decrease in the function of the organ. Pathology is manifested by high blood pressure, abdominal and lower back pain, the appearance of blood in the urine, the formation of stones, as well as renal failure. Treatment of the disease is complex.

Causes of polycystic kidney syndrome

The main causes:

  • Genetic mutations. Most cases of polycystic kidney disease are associated with mutations in a number of genes.
  • Heredity. Because it is a genetic disease, if one parent has polycystic kidney disease, there is a 50% chance of passing the disease to offspring.
  • Rare forms of disease. Autosomal recessive polycystic kidney disease occurs due to mutations in other genes, and this form of the disease is more common in families with high inbredity. That is, in children of parents who are closely related.
  • Associated diseases. Some diseases and conditions, such as Marfan syndrome, may be associated with polycystic kidney disease.

Symptoms

Polycystic kidney disease can be asymptomatic for many years. The patient begins to feel ill when the cysts reach an impressive size or a significant part of the kidney parenchyma is replaced by cystic formations. Polycystic kidney disease is characterized by the following signs:

  • Pain and heaviness in the lumbar region (kidney projection), side, abdomen. On probing, the pain increases;
  • Blood in the urine;
Man with medical problems
  • Renal cramps with the movement of stones;
  • Violation of urodynamics (rapid urination, urinary retention);
  • Polyuria (increase in daily urine volume over 1800 ml);
  • Persistent arterial hypertension (early sign, may be present in adolescence);
  • Recurrent urinary tract infections.

Genetic disorders leading to polycystic kidney disease may also be accompanied by extrarenal symptoms:

  • Formation of cysts in other organs: pancreas, ovaries, testicles, brain, intestines;
  • Diverticulosis of the colon and formation of hernias (in the groin, abdominal wall);
  • Aneurysms (bulging of the wall of blood vessels);
  • Heart valve defects.

Diagnosis of polycystic kidney disease

Diagnosis of polycystic kidney disease in children and adults is carried out by a urologist or nephrologist.

In the fetus in the womb, polycystic kidney disease is diagnosed by a doctor who performs ultrasound.

If polycystic kidney disease is suspected, the doctor will conduct a collection of anamnesis: ask whether there were problems with the kidneys in loved ones, how long ago the first symptoms of the disease appeared (pain in the kidney area, abdomen and lower back, blood in the urine).

The specialist will also prescribe blood tests to check the general condition of the body and urine tests to assess the work of the kidneys and the urinary system as a whole.

Electrolyte, creatinine, urea and uric acid tests are also recommended: they give a more comprehensive picture of kidney function and water-salt balance.

Treatment of polycystic kidney syndrome

There is no specific therapy. Treatment of polycystic kidney syndrome in men and women depends on its cause, type and stage. It is aimed at preventing complications and may include:

  • taking medications to reduce blood pressure;
  • taking antibacterial drugs (in the presence of inflammation);
  • taking iron-containing drugs (for the treatment of anemia) in case of its presence;
  • taking amino acids to treat protein deficiency (if any).

If complications develop (rupture of cysts, suppuration, hemorrhage), surgical treatment methods:

  • ultrasound-guided puncture of the cyst with subsequent removal of its contents and washing with antiseptic solutions;
  • cavity surgery – the surgeon makes an incision, removes blood or pus from the cysts.

In complicated cases, the affected organ may be removed. If severe renal failure develops, hemodialysis or transplantation is indicated.

Prevention of polycystic kidney disease

There is no specific prevention of the disease. To reduce the negative manifestations of polycystic kidney disease, it is necessary to observe the following recommendations:

  • Take prescribed therapy to lower blood pressure;
  • Avoid hypothermia;
  • Treat inflammatory diseases of the genitourinary system in a timely manner;
  • Avoid stress as much as possible;
  • Exclude increased physical activity;
  • Observe the regimen of labor and rest;
  • Give up bad habits (tobacco smoking, alcohol);
  • Eat properly (limit the use of salt, meat, fast food, fried, smoked, pickled food, as well as foods containing a lot of potassium);
  • Drink enough fluids (1.5-2 liters per day);
  • Refuse strong tea, coffee;
  • At least once a year to visit a nephrologist, urologist for a preventive examination, it will help to identify possible problems at an early stage, significantly facilitate subsequent treatment and improve the prognosis.

Conclusion 

Polycystic kidney syndrome is a genetic disorder that requires a careful approach to diagnosis and treatment. Its manifestations can be diverse, from asymptomatic courses to marked pain, arterial hypertension and renal failure. It is important to understand that although there is no specific treatment, proper therapy and regular medical monitoring can significantly slow the progression of the disease and minimize its complications. Treatment is aimed at managing symptoms, preventing infections, and maintaining normal kidney function. Preventive measures such as controlling blood pressure, avoiding unhealthy habits and regular check-ups with specialists play a key role in preventing the condition from worsening. It is important that patients with this condition receive timely and comprehensive care, which significantly improves their quality of life and prognosis.

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