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Primary Hyperoxaluria
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DOI：10.1056/NEJMra1301564.png)
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Abstract
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The primary hyperoxalurias are a group of autosomal recessive disorders of endogenous oxalate overproduction. This review discusses the major biochemical, genetic, and therapeutic advances that have led to a better understanding of the disease. The primary hyperoxalurias are a group of autosomal recessive disorders involving the overproduction of oxalate. Although the initial recognition of the disease is attributed to Lepoutre, who reported it in 1925,(1) the elucidation of the underlying biochemical abnormalities occurred many years later. This review discusses the major biochemical, genetic, and therapeutic advances that have led to a better understanding of primary hyperoxaluria. Oxalate, a dicarboxylic acid (HOOC-COOH), is a highly insoluble end product of metabolism in humans. It is excreted almost entirely by the kidney, particularly in the form of its calcium salt, and has a tendency to crystallize in ...
Keywords:
ALANINE-GLYOXYLATE AMINOTRANSFERASE
GENOTYPE-PHENOTYPE CORRELATION
CALCIUM-OXALATE UROLITHIASIS
SHOCK-WAVE LITHOTRIPSY
STAGE RENAL-DISEASE
4-HYDROXY-2-OXOGLUTARATE ALDOLASE
KIDNEY-TRANSPLANTATION
LIVER-TRANSPLANTATION
MUTATION ANALYSIS
URINARY OXALATE
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