Tibor Sedlák
Polycystic kidney disease (PKD) is a disease determined by several genetic defects localized predominantly on 16th chromosome. The course of the disease is often clinically asymptomatic and only 50 % of cases are diagnosed during the life. The ground of diagnostics is family history, ultrasound examination of kidneys and in some confounding cases also genetic examination. Progression of PKD to the end stage failure of kidneys (ESRD) happens as a result of pressure of growing cysts onto the surrounding healthy parenchyme of the kidney and progression of glomerulosclerosis. It occurs most frequently in middle age, though it was observed also in children. Factors deteriorating the prognosis of the disease are: establishing of diagnosis in younger age, male gender, recurrent episodes of macroscopic hematuria, hypertension, proteinuria, kidney growing in size. The disease might be complicated by aneurysm in the CNS, dilatation of the aorta, valvular heart defects, diverticulosis of the large intestine, hernia of the abdominal wall and inquinal hernia. Therapy is currently focused on use of receptor blocker for vazopresin V2. Consistent treatment of hypertension with prevailing blockers RAAS, amilorid, strict restriction of proteins intake to 1 g/kg/day and restriction of caffeine is inevitable. From eliminating methods the first place belongs to hemodialysis. Kidney transplantation got good results; however, specificity of the disease and consequent complications has to be considered.