Medullary Oxalose: About A Rare Case

Abstract

We report a case of medullary oxalosis in a patient with terminal chronic renal failure whose hematology laboratory performed a diagnostic work-up after pancytopenia was found. A 32-year-old patient receiving chronic hemodialysis who has had end-stage chronic renal failure for six years also has underlying cardiopathy. The patient's medical history began one month before admission, when significant asthenia, an indeterminate weight loss, and a left hypochondrial enlargement that hampered breathing first appeared. Primary hyperoxaluria can be effectively treated by a combined liver and kidney transplant, which replaces the damaged enzyme and creates a new excretion pathway for oxalate. Although systemic oxalosis can be stabilized or even reversed with effective treatment, tissue crystal clearance is sluggish; Therefore, in order to avoid irreparable organ damage, early diagnosis and treatment are essential. New forms of treatment have recently emerged, including RNA interference therapy. Prenatal diagnosis and genetic counselling have been made possible by our growing understanding of the AGXT gene and genetic advancements, raising the prospect of a revolutionary genetic engineering treatment soon.