Primary hyperoxaluria type 2 (Q87049): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | ID_347920969 |
||
| 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. |
