Primary Hyperoxaluria: Case Reports and Review of Literature
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2017, Vol 6, Issue 10
Abstract
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 fltered 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 insuffciency 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.
Authors and Affiliations
Salahiddine Saghir| FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition-P III, Rabat Children’s Hospital, Morocco Corresponding e-mail: s.salahiddine@gmail.com, Toufk Meskini| FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition-P III, Rabat Children’s Hospital, Morocco, Said Ettair| FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition-P III, Rabat Children’s Hospital, Morocco, Naima Erreimi| FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition-P III, Rabat Children’s Hospital, Morocco, Nezha Mouane| FMPR, University Mohammed V Souissi, Department of Pediatric Hepatology Gastroenterology and Nutrition-P III, Rabat Children’s Hospital, Morocco
Keywords
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