MEDIX, God. 14 Br. 74  •  Stručni članak  •  Interna medicina HR ENG

Genska osnova kronične bubrežne bolestiGenetic basis of chronic kidney disease

Ana-Maria Šimundić

U razvijenim se zemljama kronična bolest bubrega najčešće razvija kao posljedica šećerne bolesti i/ili arterijske hipertenzije. U bolesnika s kroničnom bolesti bubrega u kojih se započinje s dijalizom, njih 1/2 u podlozi ima šećernu bolest, a 1/3 arterijsku hipertenziju. Kronična se bolest bubrega češće javlja u nekim obiteljima, što ukazuje na gensku komponentu, a može se razviti kao monogenska ili poligenska. Monogenske bolesti su rijetke i nastaju kao rezultat promjene jednoga gena. Autosomno dominantna policistična bolest bubrega je jedna od najčešćih nasljednih bolesti. Uglavnom ima kroničan tijek i tek nakon mnogo godina dovodi do bubrežnog zatajenja, potrebe za dijalizom ili transplantacijom bubrega. Poligenske bolesti mnogo su češće, a nastaju kao posljedica interakcije više promijenjenih gena i okolišnih uvjeta. Od ukupnog broja oboljelih od kronične bubrežne bolesti, većina se razvija kao poligenski poremećaj, dok je bolest nastala kao posljedica monogenskih poremećaja daleko rjeđa

Ključne riječi:
monogenske bolesti, poligenske bolesti, policistična bolest bubrega, polimorfizam, prevencija

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In western countries, chronic kidney disease most frequently develops as a consequence of diabetes and/or arterial hypertension. Epidemiological data indicate diabetes and arterial hypertension to be underlying diseases in 1/2 and 1/3 of patients, respectively, affected by chronic kidney disease and subjected to dialysis. There is ample evidence to support the phenomenon that chronic kidney disease occurs more frequently in some families than others, which clearly points to the genetic component in such patients. Chronic kidney disease develops either as a monogenic or polygenic disease. Monogenic diseases are relatively rare and occur as a result of a change in one gene. Autosomal dominant polycystic kidney disease (PKD) is one of the most frequent inherited diseases. PKD usually runs a chronic course and only after many years leads to kidney failure, the need for dialysis, or kidney transplantation. On the other hand, polygenic diseases are much more frequent and currently represent a considerable challenge to scientific community. They occur as an effect of interaction between a number of altered genes and environmental conditions. Polygenic diseases are, e.g. hypertension, diabetes, atherosclerosis, coronary disease, etc. From the total number of the affected, chronic kidney disease occurs as a polygenic disorder in the majority of patients, whereas the incidence of the disease when it develops as a consequence of monogenic disorders is much rarer. New technologies and scientific progress make the basis for a number of important changes in medicine. Medicine is nowadays still mostly curative but, due to advances in science and technology, it will be preventive in the near future. How does this affect chronic kidney disease? We currently treat patients suffering from the chronic kidney disease, and in the close future we will know how to prevent it.

Key words:
monogenic diseases, polygenic diseases, polycystic kidney disease, polymorphism, prevention