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Polycystic kidney disease autosomal dominant
Knesplová, Romana ; Semecký, Vladimír (advisor) ; Herink, Josef (referee)
Autosomal dominant polycystic kidney disease is an inherited chronic disease which is characterized by the cysts formations. It's the most frequent congenital of kidney disease. Incidence occurs at about 1 : 1000. The presence of multiple cysts cause the wastage of functional parenchym, kidneys get bigger and deform. The disease progression is slow and at the beginning it is asymptomatic. The symptoms appear in the course of life by every person affected by the disease. Between the typical symptoms belong the backpain in the lumbal area, frequent urinary infections, haematuria and anterial hypertension. In the course of time the complications increase and the disease gets worse as the result of the functional glomerulus decrease. ADPKD almost everytime flow to chronic renal insufficiency at adulthood. The disease is mostly diagnosted at the higher age, because of the asymptomatic phase at the beginning. However the accidental sonography can reveal the disease at the childhood, because the cysts already begin to form. Diagnostic is done by imaging metods - mostly sonography and by radiologic methods - computer tomography. These metods serve for the prove of the multiple cysts and increase of the kidneys. Discovery of these symptoms is an indication for the molecular genetic examination which prove...

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