[Hereditary xanthinuria, rare cause of hypo-uric acidemia. 2 cases].
BACKGROUND
Hypouricemia can be observed in uncommon situations as in our two patients with hereditary xanthinuria.


METHODS
In the first case, hereditary xanthinuria was discovered in a 36-year-old man when routine tests revealed hypouricemia. In the second case, a 76-year-old woman, hypouricemia was also a fortuitous discovery. She had major xanthinuria and a radiotranslucid lithiasis in the right kidney.


CONCLUSIONS
Hereditary xanthinuria is characterized by hypouricemia, low urinary urate excretion and increased concentration of xanthine and to a lesser extent hypoxanthine. The disease results from a defect in xanthine oxidase and is considered to be transmitted by autosomal recessive heredity. This rare metabolic disorder is more often asymptomatic and detected by routine chemistry. Development of xanthine lithiasis is directly related to the low solubility of xanthine and is the main complication of the disease, occurring in 30-40% of patients. There is no effective treatment and the only useful measure is to prevent xanthine urolithiasis by maintaining urinary output above 2 l/day.
Service d'Endocrinologie, Hôpital d'Instruction des Armées Bégin, Saint-Mandé.
H
H
Mayaudon
P
P
Burnat
F
F
Eulry
C
C
Payen
O
O
Dupuy
M
M
Ducorps
B
B
Bauduceau
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007669:Kidney Calculi / Q000097:blood / Q000150:complications*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics* / Q000652:urine; D014527:Uric Acid / Q000097:blood*; D019820:Xanthine / Q000652:urine*; D014969:Xanthine Oxidase / Q000172:deficiency
D019820:Xanthine; D014527:Uric Acid; D014969:Xanthine Oxidase
La xanthinurie héréditaire, cause rare d'hypo-uricémie. 2 observations.