TESTING FOR PRIMARY HYPEROXALURIA TYPE 1 (PH1)

Diagnosing and managing PH1 as early as possible may mitigate damage.^1-5 Oxalate level evaluation and genetic testing are current approaches used to help inform a PH1 diagnosis.^1,2

GIVEN THE PROGRESSIVE, UNPREDICTABLE NATURE OF PH1, EARLY DIAGNOSIS IS CRITICAL^5,6

If PH1 is suspected, some common methods seen in clinical practice to help test for the disease are listed below.

This testing information is provided for educational purposes only and is not intended to replace the independent medical judgement of any healthcare professional.

Adapted from Groothoff JW, et al. Nat Rev Nephrol. 2023.

ERKNet and OxalEurope guidelines 2023 recommend that all patients with suspected PH1 undergo genetic testing⁷

Genetic assessment remains the gold standard of diagnosing PH1 in patients, as patients with certain PH1 genotypes respond strongly to pyridoxine, which can be difficult to measure⁷
ERKNet and OxalEurope 2023 guidelines also express the importance of genetic counselling for couples in which both partners are carriers of mutations that predispose to PH1, to enable early diagnosis and management of affected children⁷
Where genetic testing is unavailable, the guidelines recommend biochemical assessment of urinary oxalate in a 24-hour sample⁷

eGFR, estimated glomerular filtration rate.

WHERE TO TEST FOR PH1

France:

Centres de Référence des maladies rénales rares (Filiére ORKiD):

MARHEA – Paris
01 44 49 43 82

Néphrogones – Lyon
04 27 85 61 28

SoRare – Toulouse
05 34 55 86 64 (enfants) – 05 61 32 32 93 (adultes)

Italy:

Genilam

Genetic testing can detect certain genetic mutations in patients, and help doctors provide a more accurate diagnosis.

Spain:

Diagnostic tests can be requested free of charge by a healthcare professional. In case of suspicion of hyperoxaluria, the health professional can request the test by writing an email to this address
proyecto.exhplora@vallhebron.cat

UK:

Commissioned and paid for by the National Health Service (NHS) via Trust mapped Genomic Laboratory Hub.

Primary Hyperoxaluria Genetics

R257 Unexplained young onset end-stage renal disease⁸

Testing Criteria

Testing Criteria for Semi-Rapid Testing

Acutely unwell children or adults where monogenic young onset end-stage renal disease is considered highly likely to be the primary cause of the phenotype in the patient
Where testing will provide an immediate change to treatment or clinical management for the patient eg. To inform a decision about renal transplant, therapeutic intervention or prenatal testing for an ongoing at-risk pregnancy

PH1 resources

See available videos, relevant information, and downloadable materials.

Get Updates

References: 1. Ben-Shalom E, Frishberg Y. Pediatr Nephrol. 2015;30(10):1781–1791. 2. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729–1736. 3. Raju DL, Cantarovich M, Brisson ML, Tchervenkov J, Lipman ML. Am J Kidney Dis. 2008;51(1):e1–e5. 4. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649–658. 5. Milliner DS, Harris PC, Cogal AG, Lieske JC. https://www.ncbi.nlm.nih.gov/books/NBK1283/. Updated February 10, 2022. Accessed October 2023. 6. Hoppe B, Beck BB, Milliner DS. Kidney Int. 2009;75(12):1264–1271 7. Groothoff JW, Metry E, Deesker L, et al. Nat Rev Nephrol. 2023;19(3):194–211. 8. National Health Service. National Genomic Test Directory: Testing Criteria for Rare and Inherited Disease. v.6 January 2024. Accessed July 2024. https://www.england.nhs.uk/wp-content/uploads/2018/08/Rare-and-inherited-disease-eligibility-criteria-version-6-January-2024.pdf.

PH1-CEMEA-00128 | November 2023