Primary hyperoxaluria type 1 (PH1) is a progressive and life-threatening condition1,2
Primary hyperoxaluria type 1 (PH1)
- PH1 is an autosomal recessive genetic disorder caused by mutations in the AGXT gene1,3
- The condition is characterized by the hepatic overproduction of oxalate, a toxic metabolite when elevated1,2,4
Oxalate is primarily renally excreted. An excess of oxalate in the kidneys can result in the formation of calcium oxalate crystals that can cause kidney stones, nephrocalcinosis, and progressive kidney damage.1,4 When the kidneys become unable to excrete oxalate effectively,* patients are at risk of the life-threatening consequences of systemic oxalosis.4,5.
eGFR 30-44 mL/min/1.73 m2.
The rate of disease progression is variable and unpredictable.
Kidney function may decline suddenly due to dehydration, urinary obstruction, or non-compliance.6,7
Recognize PH1 when you see it
Knowing the signs and symptoms of primary hyperoxaluria type 1 (PH1) is the first step to making a diagnosis.
Clinical manifestations are a result of continuous oxalate overproduction1,4:
Kidney stones (nephrolithiasis)Recurrent, multiple, bilateral, and/or large stones in adults, or any stone in children/adolescents.1,4,8,9
NephrocalcinosisDiffuse calcification in the renal parenchyma.1,4,8,9
Impaired kidney function Progressive decline toward end-stage kidney disease (ESKD).4,8
Systemic oxalosis Deposition of oxalate in various extra-renal tissues can occur as kidney function declines.†,4,9
†eGFR 30-44 mL/min/1.73 m².
Failure to thrive Impaired physical growth in infancy or early childhood, often as a result of kidney impairment in PH1.9
Suspect PH1? Here are some commonly used testing methods9:
A 24-hour urine test is recommended by the American Urological Association (AUA) to help detect PH1.10
A spot urine ratio test can help detect elevated UOx levels when 24-hour urine test is not possible.4
Patients with PH1 often have 24-hour UOx levels 2 to 5 times higher than the upper limit of normal.11,12
A genetic test identifying AGXT mutations can help confirm a diagnosis of PH1.3
There’s always more to learn about PH1
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References: 1. Milliner DS, Harris PC, Cogal AG, et al. https://www.ncbi.nlm.nih.gov/books/NBK1283/. Updated November 30, 2017. Accessed November 16, 2020. 2. Hopp K, Cogal AG, Bergstralh EJ, et al; for Rare Kidney Stone Consortium. J Am Soc Nephrol. 2015;26(10):2559-2570. 3. Cochat P, Hulton SA, Acquaviva C, et al. Nephrol Dial Transplant. 2012;27(5):1729-1736. 4. Hoppe B, Beck BB, Milliner DS. Kidney Int. 2009;75(12):1264-1271. 5. Drawz P, Rahman M. Ann Intern Med. 2015;162(11):ITC1-16. 6. Leumann E, Hoppe B. J Am Soc Nephrol. 2001;12(9):1986-1993. 7. El-Reshaid K, Al-Bader D, Madda JP. Saudi J Kidney Dis Transpl. 2016;27(3):606-609. 8. Hoppe B. Nat Rev Nephrol. 2012;8(8):467-475. 9. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649-658. 10. American Urological Association. https://www.auanet.org/ guidelines/kidney-stones-medical-management-guideline. Published 2014. Accessed November 16, 2020. 11. Garrelfs SF, Frishberg Y, Hulton SA, et al. ILLUMINATE-A, a phase 3 study of lumasiran, an investigational RNAi therapeutic, in children and adults with primary hyperoxaluria type 1 (PH1). Presented at: 57th Congress of the European Renal Association–European Dialysis and Transplant Association (ERA-EDTA); June 6-9, 2020; Milan, Italy (virtual). 12. Bhasin B, Ürekli HM, Atta MG. World J Nephrol. 2015;4(2):235-244.