polycystózy

Polycystózy, or polycystosis, is a group of disorders characterized by multiple fluid-filled cysts in one or more organs. The kidneys and liver are the most commonly affected. In many cases polycystosis is hereditary, but cysts can also appear sporadically.

The main hereditary kidney forms are autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is usually due to PKD1 or PKD2 mutations and often leads to kidney failure in adulthood; ARPKD presents in infancy or childhood with enlarged cystic kidneys and variable liver involvement. Polycystic liver disease refers to liver cysts that may occur with kidney disease or alone, caused by several different genetic factors.

Other organs can be affected, including the pancreas or spleen in some cases. Symptoms vary: kidney cysts can cause hypertension, flank pain, hematuria, and progressive renal decline; liver cysts can cause abdominal fullness or discomfort. Many people with cysts remain asymptomatic for years.

Diagnosis relies on imaging, usually ultrasound first, with CT or MRI to assess extent. Genetic testing can confirm the diagnosis in unclear cases or for family planning.

Treatment aims to manage symptoms and slow progression. Blood pressure control, typically with renin–angiotensin system inhibitors, is important. Pain control, management of kidney failure (dialysis or transplantation), and, when needed, procedures for cysts may be used. Liver cysts are often managed conservatively; severe cases may require intervention or transplantation.

Polycystosis is relatively common among genetic conditions; ADPKD affects about 1 in 400 to 1 in 1,000 people. The course is highly variable and depends on the subtype and mutation. Early diagnosis allows monitoring to reduce complications.