Would recurrent urolithiasis, nephrocalcinosis or unexplained end-stage kidney disease (ESKD) make you think of primary hyperoxaluria type 1 (PH1)? Recognising the signs is the first step in managing this progressive disease.
Diagnosis of PH1 is challenging and many patients do not receive a diagnosis until they have progressed to chronic kidney disease (CKD) or ESKD, or have recurring symptoms following a renal transplant1,2. Identifying patients at early stages of the disease requires investigation based on clinical suspicion3,4. This section will allow you to explore the diagnostic clues for PH1 in a range of patients (Figure 1), including infants, children and adults referred to a nephrologist or urologist.
Infant with failure to thrive
Fever, possible urinary tract infection and a failure to thrive
Child with abdominal pain
Complaints of abdominal pain, nausea and vomiting
Adult with nephrocalcinosis and CKD
Renal function decline following stone removal
Adult with recurring kidney stones
Recurrent urolithiasis, requiring surgery
PH1 diagnosis references
References cited within the Diagnosis section if the Primary hyperoxaluria type 1 Learning Zone.
Developed by EPG Health for Medthority.com, with all content provided by Alnylam Pharmaceuticals. Learning Zone sponsored and funded by Alnylam Pharmaceuticals. Please note that this material is intended for healthcare professionals only.
Date of preparation: March 2021 │ OXL-CEMEA-00010
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