Xanthinuria type 1 (Q90423): Difference between revisions
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A xantinúria tipo I, um tipo de xantinúria clássica, é um distúrbio autossômico recessivo raro do metabolismo das purinas, caracterizado pela deficiência isolada de xantina desidrogenase, causando hiperxantinemia com ácido úrico baixo ou ausente e xantinúria, levando à urolitíase, hematúria, cólica renal e infecçõesurinárias, enquanto alguns pacientes são assintomáticos e outros sofrem de insuficiência renal. As manifestações menos comuns incluem artropatia, miopatia e úlcera duodenal. | |||
| description / en | description / en | ||
Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinaemia with low or absent uric acid and xanthinuria, leading to urolithiasis, haematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. | |||
Revision as of 17:23, 15 August 2026
Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinaemia with low or absent uric acid and xanthinuria, leading to urolithiasis, haematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1365934556 |
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| English | Xanthinuria type 1 |
Type I xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterised by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinaemia with low or absent uric acid and xanthinuria, leading to urolithiasis, haematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. |
