Polycystic kidney disease, both autosomal dominant (ADPKD) and autosomal recessive (ARPKD), is a genetic disease that leads to kidney failure. There is no cure with it, and the treatment used only serves to combat subsequent symptoms. Most often, patients with polycystic kidney disease require a transplant.

Polycystic kidney disease( Renal cystic degeneration , Latindegeneratio polycystica renum , ang. polycystic kidney disease (PKD) is a genetic disease that affects the kidneys.

Depending on the form of polycystic kidney disease, the first symptoms can be expected at different times in life and the exacerbation of the disease itself varies.

But the ending is always the same. Due to the numerous, constantly growing cysts (cysts filled with fluid) that put constant pressure on the kidneys (on which they are located), the structures of the organ itself are destroyed.

Kidneys can "grow" in this way, and their "bubble", cystic surface can be felt even by touch and visible to the naked eye. This inevitably leads to further impairment and the formation of chronic renal failure.

Polycystic kidney disease: types

There are two main forms of polycystic kidney disease:

  • autosomal dominant polycystic kidney disease (ADPKD)- occurs with a frequency of 1: 400-1: 1,000 births, it is the most common genetically determined kidney disease, it accounts for 8-15 percent of cases end-stage renal disease requiring renal replacement therapy
  • autosomal recessive polycystic kidney disease (ARPKD)- occurs with a frequency of about 1: 20,000 births; is revealed in infancy, it is possible to detect it prenatally

There may also be: acquired cystic disease, cystic renal dysplasia, polycystic nephropathy and other nephropathies.

Autosomal polycystic kidney disease

Polycystin kidney disease inherited predominantly with the autosomal gene (ADPKD) is caused by a mutation of the PKD1 and PKD2 genes (responsible for the coding of polycystin-1 and polycystin-2 proteins).

The most common complications leading to the death of a patient are arterial hypertension and itssequelae, stroke due to rupture of aneurysm and urinary tract infections.

It usually appears between the ages of 30 and 50 and always affects both kidneys at the same time.

The diagnosis of the disease is made by means of an ultrasound examination of the abdominal cavity, which may be supported by additional tests, e.g. tomography.

If the diagnosis shows at least three cysts in one of the kidneys, with a positive family history (someone in the family suffered from this condition), it can be concluded that it is ADPKD.

ADPKD gives the following symptoms:

  • hypertension
  • weakness
  • pains in the abdominal and lumbar region (pains can be sharp and short, as well as long and dull)
  • urinary tract infections
  • headaches
  • in the urine of a sick person you can often find the presence of protein and red blood cells.

Additionally, due to the fact that it is a multi-organ disease, apart from changes in the kidneys, in patients with ADPKD it is stated:

  • liver cysts, usually asymptomatic
  • spleen cysts
  • pancreatic cysts
  • lung cysts (less common)
  • aneurysms of the arteries of the base of the brain
  • mitral valve prolapse or other valvular heart disease (mitral regurgitation, tricuspid regurgitation)
  • aortic aneurysms
  • colon diverticulosis
  • abdominal hernias

Autosomal recessive polycystic kidney disease

Autosomal recessive polycystic kidney disease (ARPKD) develops in the neonatal and perinatal periods. Takes a form much more dangerous than ADPKD and often ends in death.

ARPKD not only impairs kidney function, but also causes:

  • respiratory system abnormalities (lung hypoplasia, atelectasis) causing respiratory failure
  • symptoms related to portal hypertension (splenomegaly, hypersplenism, esophageal varices)

Cysts develop in the kidneys and in the lungs as well.

The renal function is severely impaired and often leads to respiratory failure or arterial hypertension. By around age 20, almost all patients develop end-stage renal disease. The disease can be detected during prenatal examinations.

How to live with polycystic kidney disease?

In patients suffering from any polycystic kidney disease, nephroprotective treatment is recommended in the first place, i.e. to maintain kidney function for as long as possible: a he althy lifestyle, and above all he althynutrition. Your diet should be low in protein and fat.

Additionally, you should always take care of your body weight, monitor the calcium-phosphate balance and blood pressure.

In the case of renal failure and end-stage renal failure, renal replacement therapy (dialysis) should be administered.

Category:

Urology and Nephrology