Biochemical approach to diagnosis and differentiation of primary hyperoxalurias: an update.

摘要: The hyperoxaluria syndromes can be differentiated by the assessment of associated abnormalities in generation and urine excretion metabolically related molecules. Based on experience gained our laboratory during last decade, we have developed a comprehensive diagnostic work-up, which includes measurements oxalate, glycolate L-glycerate plasma, dialysis fluids, an assay for AGT activity liver biopsy. availability reliable assays each these parameters is indispensable recognition differentiation hyperoxalurias. Patients suspected to oxalate metabolism are first screened analysing spot urines serum, subsequently subjected more extensive studies using properly pre-treated blood samples 24-hour collection. activity, case PH1, assayed few milligrams specimen sensitive chromatographic procedure. Pertinent biochemistries will also assist long-term medical follow-up patients view choice renal replacement or transplantation strategies.