Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine oxidoreductase or dehydrogenase (XDH) deficiency. We report a family with two affected children out of 335 pediatric stone patients studied since 1991 in Armenia. The propositus, a 13-month-old boy, presented with abdominal pain and urinary retention followed by stone passage (0.9x0.6 cm). Infrared spectroscopy in Yerevan revealed a pure xanthine stone. Family examination in the parents and brother was normal, but the propositus and his 8-year-old asymptomatic sister had hypouricemia, hypouricosuria, and high urinary excretion of hypoxanthine and xanthine. Ultrasonography in the index patient showed bilateral stones requiring pyelolithotomy. High fluid intake and purine restriction did not prevent further stone passages. The affected asymptomatic sister had a small pelvic stone (4 mm). Mutation analysis revealed a heterozygous novel base pair substitution in exon 25 of the XDH gene (c.2810C>T), resulting in an amino acid substitution (p.Thr910Met). The second mutation could not be detected. Despite this, the heterozygous mutation, the chemical findings, and the positive allopurinol test altogether prove xanthinuria type I, which may present wide clinical intrafamilial variation. Diagnosis is suspected usually from low serum uric acid. No specific therapy is available.
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PMID:Xanthinuria type I: a rare cause of urolithiasis. 1711 98

Hereditary xanthinuria type I, a defect of purine metabolism, results from a genetic deficiency of xanthine oxidase. It is an uncommon cause of stone formation in children. We report here two children with xanthine urolithiasis. The first patient was an 8-year-old boy who presented with repeated episodes of hematuria evaluated with excretory urography, which demonstrated radio-lucent pelvic stone in the right kidney, causing hydronephrosis. He had pyelolithotomy, and the extracted stone consisted of pure xanthine. Family study revealed an asymptomatic xanthinuria in younger brother. The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. Conventional excretory intravenous urography showed a non-functioning right kidney. Nephrectomy was performed, and histology revealed end-stage pyelonephritis. The calculi consisted of pure xanthine. In both patients, plasma and urinary concentrations of uric acid were low but xanthine and hypoxanthine concentrations were markedly elevated. Xanthine urolithiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines. However asymptomatic, and therefore undiagnosed, stones may invade the kidney and urinary tract, resulting in destruction of parenchyma, nephrectomy and renal failure.
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PMID:Xanthine urolithiasis. 2022 23