Primary hyperoxaluria (PH) encompasses a group of rare genetic metabolic disorders that are characterized by the accumulation of oxalate in the kidneys and other organs. There are three main types of PH, differentiated by the specific enzyme that is deficient: PH1, PH2, and PH3. Clinically, type 1 is the most common type, accounting for approximately 80% of PH cases. Individuals with PH1 are at increased risk for kidney impairment and complications of nephrolithiasis. The early diagnosis of PH1 is important for initiation of treatment, which is essential to optimize outcomes.
How familiar are you with recommendations for the screening and diagnosis of PH1? Test your knowledge with this quick quiz.
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Cite this: Bradley Schwartz. Fast Five Quiz: Primary Hyperoxaluria Type 1 Screening and Diagnosis - Medscape - Dec 15, 2022.