Studies on Primary Hyperoxaluria

Abstract

PRIMARY hyperoxaluria, a recently described genetic disorder of oxalate metabolism, is characterized clinically by recurrent calcium oxalate nephrolithiasis and nephrocalcinosis. The disease usually appears in early childhood, with progression of renal damage to death in uremia.^{1 2 3} Calcium oxalate deposits may be demonstrable in extrarenal tissues at post-mortem examination, a pathologic condition termed oxalosis. The occasional occurrence of primary hyperoxaluria in siblings has suggested its transmission as an autosomal recessive trait although no defect in persons assumed to be heterozygotes has been found. A clinically similar but milder disorder has been reported in a few adults.^{4 , 5} The true incidence of derangements . . .