What happens to the kidneys
Due to a genetic defect, kidney tubule cells begin to form closed cavities filled with fluid. Cysts appear in both kidneys, gradually increase in number and size and mechanically compress the surrounding healthy tissue.
At the same time, the kidneys increase significantly - sometimes up to several kilograms each - and the number of working nephrons decreases. The function remains normal for a long time due to compensatory capabilities, and that is why the disease is almost asymptomatic for decades.
The disease is systemic: cysts often also form in the liver, less often in the pancreas and spleen, and in some patients aneurysms of cerebral vessels and changes in the heart valves occur.
Inheritance
- The autosomal dominant form is the most common; usually manifests itself in adults. If one parent is sick, the chance of passing it on to the child is about half, regardless of gender.
- The autosomal recessive form is rare, severe, and manifests itself in young children; both parents are carriers
- Possible sporadic cases without family history due to new mutation
Symptoms
- Long-term asymptomatic course, often until middle age
- Increased blood pressure is often the very first sign that appears even when kidney function is normal.
- Dull pain and heaviness in the lower back and sides
- Feeling of an enlarged abdomen
- Blood in the urine - when a vessel ruptures in the wall of the cyst
- Recurrent urinary tract infections and cyst infections
- Kidney stones
- Headaches
- As it progresses - weakness, nausea, swelling, night urination, itching
Diagnostics
- Renal ultrasound is the main method: multiple cysts in both kidneys, taking into account the patient’s age
- CT or MRI - accurate assessment of the number and volume of cysts, differential diagnosis
- Measuring total kidney volume using MRI is a predictor of rate of progression
- Creatinine with GFR calculation, urinalysis, albumin in urine
- 24-hour blood pressure monitoring
- Ultrasound of the liver - detection of liver cysts
- Genetic testing - in unclear cases, in young relatives and during family planning
- MR angiography of cerebral vessels - for a family history of aneurysms or stroke, for headaches
- Echocardiography for suspected valve damage
Treatment: What Really Slows Progression
It is impossible to eliminate cysts, but the rate of decline in kidney function is largely controllable. Key measures have proven their effectiveness.
- Strict blood pressure control is the most important factor
- Adequate water intake throughout the day
- Significant salt restriction
- Moderate protein restriction in later stages as recommended by a nephrologist
- Maintaining normal body weight and quitting smoking
- Quitting non-steroidal anti-inflammatory drugs without a doctor's prescription
- Specific therapy to slow the growth of cysts - in selected patients with rapid progression, at the discretion of the nephrologist
- Timely treatment of urinary tract infections
- Caution with contact sports due to the risk of cyst rupture
Treatment of complications
- Anesthesia and puncture of large cysts with severe pain syndrome
- Fine needle aspiration and sclerotherapy of individual cysts
- Antibacterial therapy for cyst infection - requires drugs that penetrate well into the cyst cavity
- Drainage of a suppurating cyst
- Treatment of urolithiasis
- Stopping bleeding with massive hematuria
- Nephrectomy - for recurrent infections, severe pain, huge kidney volume, or as preparation for transplantation
- Renal replacement therapy and end-stage kidney transplantation
Where to watch in Tashkent
Polycystic disease requires lifelong monitoring: monitoring blood pressure, kidney function and timely treatment of complications.
In Tashkent, urological examination and treatment of complications of polycystic disease, including puncture and aspiration of cysts, are carried out at the UROLOGIC COMPLEX medical center and at the Tashkent Medical Park clinic; systemic management - together with a nephrologist.
If polycystic disease is detected in one of your parents, do an ultrasound of the kidneys and measure the pressure, even if nothing worries you: pressure control, started early, significantly delays the decline in kidney function. Clinic contacts are below.
