PRIMARY HYPEROXALURIA TYPE I: FROM INFANTILE TO ADULT FORM WITH END-STAGE RENAL FAILURE: RARE CASE AND THERAPEUTIC ASPECTS

Abstract

Primary hyperoxaluria type I (HP1) is a very rare autosomal recessive inherited metabolic disease due to a hepatic alanine-glyoxylate aminotransferase (AGXT) enzyme deficiency. The result is excessive production and elimination of oxalate and glycolate leading to renal failure and systemic thesaurismosis. Diagnosis is based on oxaluria, followed by genotyping, as confirmation of the type of hyperoxaluria is essential for management and allows prenatal diagnosis. Conservative treatment (pyridoxine, hydration, crystallization inhibitors) is essential and must be early and the surgical management of recurrent calculi is very difficult, and requires the least invasive procedures possibleby experienced urologists in order to preserve as much renal parenchyma as possible. It is a serious disease that is often diagnosed late and its radical treatment requires costly and demanding hepato-renal replacement. Knowledge of thealanine-glyoxylate aminotransferase gene and genetic progress has made its prevention possible through prenatal diagnosis and genetic counseling. In this article, we present the case of a young patient treated for this rare disease since childhood to raise awareness among all medical staff, especially pediatricians, urologists and nephrologists, of this pathology which can be mitigated and whose progression can be slowed down if diagnosed at an early stage not like our patient necessitating liver-renal transplantation as the ultimate treatment.