Xanthinuria type 2 (Q90429): Difference between revisions
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A xantinúria tipo II, um tipo de xantinúria clássica, é um distúrbio autossômico recessivo raro do metabolismo das purinas caracterizado pela deficiência de xantina desidrogenase e aldeído oxidase, levando à formação de urolitíase de xantina urinária e levando, em alguns pacientes, à insuficiência renal. Outras manifestações menos comuns incluem artropatia, miopatia e úlcera duodenal, enquanto alguns pacientes permanecem assintomáticos. | |||
| description / en | description / en | ||
Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. | |||
Revision as of 17:24, 15 August 2026
Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1675893580 |
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| English | Xanthinuria type 2 |
Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. |
