A Case of Hereditary Xanthinuria Type 1 Accompanied by Bilateral Renal Calculi
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概要
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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.
著者
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Ichida Kimiyoshi
Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Japan
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Fujiwara Yutaka
Department Of Dermatology Rosai-hospital
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Ichida Kimiyoshi
Department Of Pathophysiology School Of Pharmacy Tokyo University Of Pharmacy And Life Sciences
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Shinohara Yoshihiko
Department Of Pathophysiology School Of Pharmacy Tokyo University Of Pharmacy And Life Sciences
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Shinohara Yoshihiko
Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Japan
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Kawakami Yoshikazu
Health Care Center, KKR Sapporo Medical Center, Japan
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