Abstract

Primary Hyperoxaluria: Case Reports and Review of Literature

Primary hyperoxaluria type 1 (PH1) is a metabolic disorder that mainly affects the kidneys. It results from build-up of a substance called oxalate, which normally is filtered through the kidneys and excreted in the urine. In people with PH1, the accumulated oxalate is deposited in the kidneys and urinary tract. We report a series of 4 cases of different ages, grouping various clinical forms and presentations. Hydro-electrolyte disorders and renal insufficiency were present in all cases, genetic diagnosis was made in 2 cases. All patients were placed on supportive therapies and peritoneal dialysis. Additionally, a review of the literature for presentations, diagnosis, complications, and treatment of this rare genetic metabolic disease were included.

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