Primary hyperoxaluria type 2 (Q87049): Difference between revisions
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Hiperoxalúria primária tipo 2 é um transtorno raro do metabolismo do glioxilato causada por deficiência da enzima glioxilato redutase/hidroxipiruvato redutase. É caracterizada por início das manifestações clínicas na infância, que influem nefrolitíase, nefrocalcinose e doença renal terminal com subsequente oxalose sistêmica. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Primary hyperoxaluria type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase. It is characterised by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/347920969 / rank | |||||||||||||||
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CID11:ID_347920969 | |||||||||||||||
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dki-india-ID_347920969 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 12:37, 15 August 2026
Primary hyperoxaluria type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase. It is characterised by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.
| Language | Label | Description | Also known as |
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| default for all languages | ID_347920969 |
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| English | Primary hyperoxaluria type 2 |
Primary hyperoxaluria type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase. It is characterised by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. |
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CID11:ID_347920969
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dki-india-ID_347920969
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Concluído
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13 August 2026
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