Pediatria pre prax 6/2015

Hereditary disorders of purine metabolism associated with renal impairment

Purines belong the group of biologically important substances, which are present in all human tissues and provide the regulation of several cellular processes. Defects of purine metabolism are the cause of a wide spectrum of diseases. Among the important group of these diseases belongs the hereditary disorder of purine metabolism associated with impaired renal function. Early diagnosis of these diseases is a prerequisite for early treatment and elimination of developing severe progressive and irreversible consequences. However diagnosis of these diseases is very difficult. The reason is the low prevalence and high variability of additional phenotypic manifestations. Increased awareness of this group of rare inherited diseases is the basis of their early intervention.

Keywords: purines, hyperuricemia, hypouricemia, uromoduline, xanthinuria.