Primary Hyperoxaluria Type 1: A great masquerader

Abstract

Primary hyperoxaluria (PH) Types I, II, and III is an autosomal recessive inherited disorder of defect in glyoxylate metabolism due to specific hepatic enzyme deficiencies causing renal damage due to deposition of oxalate crystals that induce renal epithelial cell injury, and inflammation resulting in reduced renal oxalate elimination leading to extra renal deposition of calcium oxalate crystals. PH is under diagnosed because of phenotypic heterogeneity masquerading as infantile nephrocalcinosis (NC) with or without renal failure or renal calculus disease in adults. We present three children with genetically proven PH1 seen over last 2 years along with a brief review of the literature. In this series all cases were female. Two girls had infantile onset of symptoms and one presented in childhood. Renal failure in all with varying sonography features including small size kidneys, multiple renal calculi, bulky kidneys with loss of corticomedullary differentiation were seen. Extrarenal affection was seen in one child. Renal replacement therapy was provided in all. Awareness of PH and early diagnosis by measurement of plasma and urinary oxalate and molecular characterization helps in prompt aggressive therapy, preventing extrarenal manifestations and plan long term management.