WHAT MORE MAY BE

BEHIND THE STONE?

Recurrent kidney stones in an adult or any kidney stone in a child may be early signs of a metabolic stone disease with potentially devastating consequences, such as primary hyperoxaluria type 1 (PH1).^1–4

LEAVE NO KIDNEY STONE UNTURNED

Any unusual stone may be a sign of a metabolic stone disease, such as primary hyperoxaluria type 1, and merits further investigation^1,2

Children or Adolescents

Any stone or a family history of stones may be red flags.^1,3–5

Adults

Recurrent and/or unusual stones* may be red flags.^1,6–9

Testing

A 24-hour urine test can be used to help detect metabolic stone disease.^10–12

*Including multiple, bilateral, and/or large stones.

PH1 IS A RARE, PROGRESSIVE, LIFE-THREATENING INHERITED DISEASE.^3,4

PH1 is caused by autosomal recessive mutations in the AGXT gene, leading to overproduction of oxalate in the liver.^3,4 Over time, oxalate overproduction can lead to progressive kidney function decline.^2,4

PH1: UNDERDIAGNOSED AND DELAYED DIAGNOSIS^8,13–16

Diagnosis is often delayed when PH1 is overlooked

of PH1 patients may be undiagnosed, although data on prevalence are limited.¹⁶

5.5
YEARS

is the median delay in adults between onset of clinical manifestations and diagnosis.¹⁴

UP TO

of diagnoses in adults occur after progression to end-stage kidney disease (ESKD).^13,17–20

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PH1 MANAGEMENT APPROACHES

Current management approaches to PH1 aim at enhancing clearance of oxalate, inhibiting oxalate crystallisation, or lowering oxalate production by the liver.^3,4,11

Testing patients for PH1

See how genetic testing plays an important role in a PH1 diagnosis.^3,11

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References: 1. Ferraro PM, D’Addessi A, Gambaro G. Nephrol Dial Transplant. 2013;28(4):811–820. 2. Hoppe B. Nat Rev Nephrol. 2012;8(8):467–475. 3. Milliner DS, Harris PC, Sas DJ, et al. Primary hyperoxaluria type 1. GeneReviews^® [Internet]. Updated 15 August 2024. Accessed January 2025. https://www.ncbi.nlm.nih.gov/books/NBK1283/ 4. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649–658. 5. Hoppe B, Kemper MJ. Pediatr Nephrol. 2010;25(3):403–413. 6. Jendeberg J, Geijer H, Alshamari M, et al. Eur Radiol. 2017;27(11):4775–4785. 7. Carrasco A Jr, Granberg CF, Gettman MT, et al. Urology. 2015;85(3):522–526. 8. Hoppe B, Beck BB, Milliner DS. Kidney Int. 2009;75(12):1264–1271. 9. Leumann E, Hoppe B. J Am Soc Nephrol. 2001;12(9):1986–1993. 10. Ben-Shalom E, Frishberg Y. Pediatr Nephrol. 2015;30(10):1781–1791. 11. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729–1736. 12. Groothoff JW, Metry E, Deesker L, et al. Nat Rev Nephrol. 2023;19(3):194–211. 13. Harambat J, Fargue S, Acquaviva C, et al. Kidney Int. 2010;77(5):443–449. 14. van der Hoeven SM, van Woerden CS, Groothoff JW. Nephrol Dial Transplant. 2012;27(10):3855–3862. 15. Hulton SA. Int J Surg. 2016;36(Pt D):649–654. 16. Hopp K, Cogal AG, Bergstralh EJ, et al. J Am Soc Nephrol. 2015;26(10):2559–2570. 17. van Woerden CS, Groothoff JW, Wanders RJA, et al. Nephrol Dial Transplant. 2003;18(2):273–279. 18. Mandrile G, van Woerden CS, Berchialla P, et al; for OxalEurope Consortium. Kidney Int. 2014;86(6):1197–1204. 19. Lieske JC, Monico CG, Holmes WS, et al. Am J Nephrol. 2005;25(3):290–296. 20. Soliman NA, Nabhan MM, Abdelrahman SM, et al. Nephrol Ther. 2017;13(3):176–182.

PH1-INTR-00019 | January 2025