A clinical diagnosis of PH1 relies in part on metabolic screening. Urinary oxalate excretion exceeding 40-45 mg (< 0.50 mmol)/1.73 m2/24 h define hyperoxaluria. In individuals with reduced kidney function, the kidneys are unable to excrete oxalate efficiently, so urinary oxalate measurements may be falsely low. However, plasma oxalate levels begin to rise. Plasma oxalate levels of > 50 μmol/L are suggestive of PH1. In addition, higher plasma oxalate levels may be a risk factor for end-stage kidney disease (ESKD).
Learn more about the workup for PH1.
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Cite this: Bradley Schwartz. Fast Five Quiz: Primary Hyperoxaluria Type 1 Screening and Diagnosis - Medscape - Dec 15, 2022.
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