Figure 1. Stage 5 kidney disease.
Kidney stones are the most common clinical manifestation that may lead to a diagnosis of PH1. Guidelines for the screening and diagnosis of PH1 suggest that the diagnosis of PH should be suspected in children and infants with a first kidney stone and in adults with recurrent kidney stones.
Other clinical manifestations that should raise clinical suspicion for PH1 include:
Calcium oxalate monohydrate kidney stones
Nephrocalcinosis and decreased GFR
Progressive decline in kidney function of unknown cause
Failure to thrive in infancy
Learn more about screening for and diagnosing PH1.
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Cite this: Bradley Schwartz. Fast Five Quiz: Primary Hyperoxaluria Type 1 Screening and Diagnosis - Medscape - Dec 15, 2022.