Research In Practice Blog
Intro
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that can have serious life-threatening complications. Early signs of PH1--primarily kidney stones—can be mistaken as signs of other health issues, but the introduction of novel therapeutics creates new opportunities for early detection and treatment than can vastly improve outcomes for individuals with this disease. Dr. Tasian and his research colleagues hypothesized that a set of features that precedes the diagnosis of PH1 may, if identified, enable earlier detection and treatment.
Study design & findings
To determine which clinical features may precede a PH1 diagnosis, 37 patients with genetically confirmed PH1 were matched by sex and PEDSnet institution to 147 control patients with kidney stones without PH of any type. Patients with PH1 were younger at diagnosis and were more likely to have combinations of nephrocalcinosis on ultrasound or CT, lower eGFR at diagnosis, and normal mobility. Patients with PH1 also had higher proportion of calcium oxalate monohydrate kidney stones than controls.
Implications / Research in Practice
This study demonstrated that children with PH1 are characterized by presentation before adolescence, nephrocalcinosis, decreased eGFR at diagnosis, and calcium oxalate monohydrate stone composition. Ultimately, this study informs decisions about when to proceed with genetic testing for the AGXT gene mutation (the cause of PH1) earlier in the diagnostic process.
Clinical Futures author(s): Gregory E Tasian, MD, MSc, MSCE
Additional Children’s Hospital of Philadelphia author(s): Christopher B Forrest, MD, PhD, Grace Park, MPH, Kimberley Dickinson