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Diagnosis and management of primary hyperoxaluria type 1
Declaration of sponsorship Alnylam Pharmaceuticals

PH1 diagnosis

Declaration of sponsorship Alnylam Pharmaceuticals
Read time: 5 mins
Last updated:6th Apr 2021
Published:6th Apr 2021

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.

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Figure 1. Signs of hyperoxaluria in children and adults (adapted from Milliner et al. 20174).

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Date of preparation: March 2021 │ OXL-CEMEA-00010

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