Why the study?
Primary hyperoxaluria type I causes systemic calcium oxalate depositions leading to renal failure and systemic oxalosis, with limited data on cardiac complications such as mitral regurgitation and heart failure.
Case Report (n=2)
Primary hyperoxaluria type I (PH I) is a rare recessive autosomal disorder characterized by systemic calcium oxalate depositions, that results in renal failure and systemic oxalosis. We report a 38-year-old male with cardiac oxalosis, a severe complication of PHI, presenting with an infiltrative cardiomyopathy, secondary heart failure and severe mitral regurgitation, necessitating surgical repair to allow combined liver-kidney transplantation. We discuss pathogenesis, diagnostics and therapy of this clinical entity by reviewing literature.
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Driessche et al. (2007) conducted a case report in End-stage kidney disease with crystalline retinopathy (n=2). Hyperphosphatemia and oxalosis was evaluated on Retinal vascular occlusion and vision loss.
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