title: A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.
abstract: Hereditary xanthinuria is an extremely rare purine metabolism disorder caused by a genetic abnormality in xanthine dehydrogenase. A new case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi was encountered. We performed an allopurinol loading test and diagnosed classical type 1 xanthinuria. Through genetic diagnosis, we identified a mutation site in the xanthine dehydrogenase gene. Genetic analysis revealed a homozygous deletion of cytosine 2,567 in the xanthine dehydrogenase gene, and as a result, a stop codon was formed at position 928. Renal failure caused by the deposition of xanthine crystals is a known complication because xanthine is poorly soluble in water. With high fluid intake and low purine diet, no significant increase in calculi has been observed in this patient for 2 years.
authors: Department of Endocrinology and Metabolism, KKR Sapporo Medical Center, Japan. Yutaka-Fujiwara@kkr-smc.com
authors: Yutaka
authors: Y
authors: Fujiwara
authors: Yoshikazu
authors: Y
authors: Kawakami
authors: Yoshihiko
authors: Y
authors: Shinohara
authors: Kimiyoshi
authors: K
authors: Ichida
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D019271:Hypoxanthine / Q000378:metabolism; D007669:Kidney Calculi / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics* / Q000378:metabolism; D017384:Sequence Deletion; D019820:Xanthine / Q000378:metabolism; D014968:Xanthine Dehydrogenase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000378:metabolism
chemical_list: D018389:Codon, Nonsense; D019820:Xanthine; D019271:Hypoxanthine; D014968:Xanthine Dehydrogenase