Urologie pro praxi 4/2004
Urolitiáza a dědičné metabolické poruchy
UROLITHIASIS AND INHERITED METABOLIC DISORDERS Urolithiasis is a component of clinical picture in different inherited metabolic disorders – cystinuria, hereditary hyperuricemia, adenine phosphoribosyltransferase deficiency with excretion of 2,8-dihydroxyadenine, primary hyperoxaluria, hereditary xantinuria and orotic aciduria. Hereditary urolithiases often cause chronic kidney damage. They have renal as well as extrarenal symptoms. They could be diagnosed with specialized biochemical investigations. Contemporary therapeutical methods reduce excretion of pathological metabolites and improve prognosis of patients with hereditary urolithiases. Key words: urolithiasis, inherited metabolic disorders, inborn errors of metabolism, cystinuria, hyperuricemia, 2,8-dihydroxyadenine, hereditary xanthinuria, orotic aciduria.