Hereditary xanthinuria – a very rare cause of hypouricaemia and nephrolithiasis
Article published in Urologia Polska 2008/61/2.

authors

Agnieszka Jurecka, Anna Tylki-Szymańska: Klinika Chorób Metabolicznych, Endokrynologii i Diabetologii, Instytut Pomnik – Centrum Zdrowia Dziecka w Warszawie

keywords

xanthine oxidase xanthinuria xanthine lithiasis

summary

Classical xanthinuria is a rare inborn error of metabolism caused by isolated deficiency of xanthine oxidase (XDH) or combined deficiency

of xanthine oxidase and aldehyde oxidase (AO). Two types are clinically similar and the most often manifestation is urolithiasis

which can lead to acute renal failure. Biochemically the disease is characterised by elevated oxipurines (xanthine and hypoxanthine) in

physiological fluids, hypouricaemia and hypouricosuria.

Very low or undetectable level of uric acid in plasma and urine is an important indication of xanthinuria. Treatment remains unspecific

and aims at decreasing the risk of xanthine stone formation.

We discuss the clinical picture, biochemical and molecular diagnostics of hereditary xanthinuria and differential diagnosis of hypouricaemia

and xanthine lithiasis.

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