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

Sign up to receive further information about PH1

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

Get Updates

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, Cogal AG, Lieske JC. https://www.ncbi.nlm.nih.gov/books/NBK1283/. Updated February 10, 2022. Accessed June 21, 2023. 4. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649-658. 5. Hoppe B, Kemper MJ. Pediatr Nephrol. 2010;25:403-413. 6. Jendeberg J, Geijer H, Alshamari M, Cierzniak B, Lidén M. Eur Radiol. 2017;27(11):4775-4785. 7. Carrasco A Jr, Granberg CF, Gettman MT, Milliner DS, Krambeck AE. 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;12:1986-1993.10. 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;77:443-449. 14. van der Hoeven SM, van Woerden CS, Groothoff JW. Nephrol Dial Transplant. 2012;27:3855-3862. 15. Hulton SA. Int J Surg. 2016;36:649-654. 16. Hopp K, Cogal AG, Bergstralh EJ, et al. J Am Soc Nephrol. 2015;26:2559-2570. 17. van Woerden CS, Groothoff JW, Wanders RJA, Davin JC, Wijburg FA. 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-CEMEA-00125 | November 2023