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Primary hyperoxaluria (PH) is an autosomal recessive genetic defect of hepatic glyoxylate metabolism, with increased endogenous oxalate production. Oxalate is excreted almost exclusively by the kidneys. This overproduction causes the formation of calcium oxalate crystals, with the consequent formation of nephrolithiasis and nephrocalcinosis.
Discussion: This patient presented a case of systemic oxalosis affecting myocardium, soft tissues and skin. No investigation was made regarding involvement of other tissues. Patient died after 4 weeks of hospitalization due to extensive necrosis of lower limbs that was not surgically possible to resolve and infectious complications. Although the definitive diagnosis of PH type I requires a genetic study, this is not available in our country; However, we emphasize that the combination of: kidney disease at an early age, nephrocalcinosis, history of repeated lithiasis, extensive calcification of skin and soft tissues, systemic oxalosis, is sufficient to establish the clinical diagnosis of PH, and this clinical presentation is more compatible with PH type I.
I have presented this abstract in a local congress at my country of origin, and I also declare that re-submitting the abstract is permitted by the organizers of the original meetings.