KNOW THE SIGNS OF PH1

Primary hyperoxaluria type 1 (PH1) has heterogeneous clinical manifestations.¹ However, if you know what to look for, working towards a diagnosis can be straightforward.^2,3

RECOGNISING THE SIGNS OF PH1

PH1 is a heterogeneous disease.^1,4 PH1 patients with identical genotypes, and even members of the same family, can have variable disease symptoms.⁴

In infants and children

Infant and child patients may present with one or more of the clinical manifestations below:^1,4–7

In adults

Patients may present with one or more of the clinical manifestations below:^1,4–7

Kidney stones are the most common clinical manifestation and the one that most often leads to a diagnosis of PH1, though not all patients with PH1 may be stone formers.^5,8,9 All patients suspected to have PH1 should undergo genetic assessment according to the ERKNet and OxalEurope 2023 clinical practice recommendations.¹⁰

REGARDLESS OF KIDNEY FUNCTION, ACUTE DECLINE CAN OCCUR SUDDENLY^11,12

Though the course of PH1 is well characterised, with patients typically advancing toward ESKD, the rate of progression is variable.^1,5,13 In some instances, kidney function can decline after a single incident of dehydration due to acute illness or intense physical activity.^{11,12,14–16} This can occur even in patients with previously stable disease.¹⁴

PH1 CAN BE LIFE-THREATENING, OFTEN DUE TO COMPLICATIONS OF ESKD AND/OR SYSTEMIC OXALOSIS¹

Once the estimated glomerular filtration rate declines to below 30–45 mL/min/1.73 m², systemic oxalosis can occur because the kidney is unable to excrete oxalate effectively due to excess accumulation of calcium oxalate crystals.^5,6

Diagnose as soon as possible to ensure prompt management.^{1,2,3,6,19,20}

ERKNET AND OXALEUROPE 2023 CLINICAL PRACTICE RECOMMENDATIONS

ERKNet and OxalEurope 2023 clinical practice recommendations advise that all patients with suspected PH1 undergo genetic testing¹⁰

“Zoe and Ryan (brother) were genetically tested following Nathan’s (brother) [PH1] diagnosis. At that time Zoe had no symptoms at all. We had no suspicion that there was anything wrong. The bloods were, it seemed OK, but her kidneys had a lot of kidney stones. How she was coping with that, I’ve got no idea.”

Becky

UK mother of two children with PH1

KIDNEY STONES MAY BE A SIGN OF SOMETHING MORE SERIOUS²¹

Recurrent kidney stones in an adult or any kidney stone in a child or adolescent could be a sign of a metabolic stone disease like PH1.^21,22
Consider these patients for a full work-up and using genetic testing to help confirm PH1.²¹

Testing patients for PH1

See how genetic testing plays an important role in a PH1 diagnosis.^1,3

Get updates

References: 1. 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/ 2. Ben-Shalom E, Frishberg Y. Pediatr Nephrol. 2015;30(10):1781–1791. 3. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729–1736. 4. Hoppe B. Nat Rev Nephrol. 2012;8(8):467–475. 5. Hoppe B, Beck BB, Milliner DS. Kidney Int. 2009;75(12):1264–1271. 6. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649–658. 7. Hopp K, Cogal AG, Bergstralh EJ, et al. J Am Soc Nephrol. 2015;26(10):2559–2570. 8. Edvardsson VO, Goldfarb DS, Lieske JC, et al. Pediatr Nephrol. 2013;28(10):1923–1942. 9. Hoppe B, Langman CB. Pediatr Nephrol. 2003;18(10):986–991.10. Groothoff JW, Metry E, Deesker L, et al. Nat Rev Nephrol. 2023;19(3):194–211. 11. Cochat P. Kidney Int. 1999;55(6):2533–2547. 12. Leumann E, Hoppe B. J Am Soc Nephrol. 2001;12(9):1986–1993. 13. Jamieson NV. Am J Nephrol. 2005;25(3):282–289. 14. El-Reshaid K, Al-Bader D, Madda JP. Saudi J Kidney Dis Transpl. 2016;27(3):606–609. 15. Harambat J, Fargue S, Bacchetta J, et al. Int J Nephrol. 2011;2011:864580. 16. Tintillier M, Pochet JM, Cosyns JP, et al. Clin Nephrol. 2004;62(2):155–157. 17. Falk N, Castillo B, Gupta A, et al. Ann Clin Lab Sci. 2013;43(3):328–331. 18. Lorenz EC, Michet CJ, Milliner DS, et al. Curr Rheumatol Rep. 2013;15(7):340. 19. van Woerden CS, Groothoff JW, Wanders RJA, et al. Nephrol Dial Transplant. 2003;18(2):273–279. 20. Raju DL, Cantarovich M, Brisson ML, et al. Am J Kidney Dis. 2008;51(1):e1–e5. 21. Ferraro PM, D’Addessi A, Gambaro G. Nephrol Dial Transplant. 2013;28(4):811–820. 22. Hoppe B, Kemper MJ. Pediatr Nephrol. 2010;25(3):403–413.

PH1-INTR-00021 | January 2025

KNOW THE SIGNS OF PH1

RECOGNISING THE SIGNS OF PH1

In infants and children

Haematuria

Urinary tract infection

Stone passage

Chronic kidney disease

Failure to thrive in infants

Dysuria

End-stage kidney disease (ESKD)

Abdominal pain

Nephrocalcinosis

Family history of stones/kidney disease

In adults

Recurrent kidney stones

Chronic kidney disease

ESKD without history of stones

History of unrecognised symptoms

Nephrocalcinosis

Family history of stones/kidney disease

REGARDLESS OF KIDNEY FUNCTION, ACUTE DECLINE CAN OCCUR SUDDENLY^11,12

PH1 CAN BE LIFE-THREATENING, OFTEN DUE TO COMPLICATIONS OF ESKD AND/OR SYSTEMIC OXALOSIS¹

ERKNET AND OXALEUROPE 2023 CLINICAL PRACTICE RECOMMENDATIONS

KIDNEY STONES MAY BE A SIGN OF SOMETHING MORE SERIOUS²¹

Testing patients for PH1

Get updates

KNOW THE SIGNS OF PH1

RECOGNISING THE SIGNS OF PH1

In infants and children

Haematuria

Urinary tract infection

Stone passage

Chronic kidney disease

Failure to thrive in infants

Dysuria

End-stage kidney disease (ESKD)

Abdominal pain

Nephrocalcinosis

Family history of stones/kidney disease

In adults

Recurrent kidney stones

Chronic kidney disease

ESKD without history of stones

History of unrecognised symptoms

Nephrocalcinosis

Family history of stones/kidney disease

REGARDLESS OF KIDNEY FUNCTION, ACUTE DECLINE CAN OCCUR SUDDENLY11,12

PH1 CAN BE LIFE-THREATENING, OFTEN DUE TO COMPLICATIONS OF ESKD AND/OR SYSTEMIC OXALOSIS1

ERKNET AND OXALEUROPE 2023 CLINICAL PRACTICE RECOMMENDATIONS

KIDNEY STONES MAY BE A SIGN OF SOMETHING MORE SERIOUS21

Testing patients for PH1

Get updates

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REGARDLESS OF KIDNEY FUNCTION, ACUTE DECLINE CAN OCCUR SUDDENLY^11,12

PH1 CAN BE LIFE-THREATENING, OFTEN DUE TO COMPLICATIONS OF ESKD AND/OR SYSTEMIC OXALOSIS¹

KIDNEY STONES MAY BE A SIGN OF SOMETHING MORE SERIOUS²¹