A rare and progressive genetic disorder causing oxalate overproduction by the liver that can result in recurrent kidney stones and progressive kidney damage.1,2
The progression of PH1
PH1 is a genetic condition that results in a liver enzyme deficiency causing glyoxylate dysregulation. Hepatic lactate dehydrogenase (LDH) converts glyoxylate into oxalate—the final step in the overproduction of oxalate.1,3
This can result in nephrolithiasis, nephrocalcinosis, progressive kidney damage, and declining kidney function.4
The symptom presentation and disease course of PH1 is unpredictable and varies by patient. Early diagnosis and appropriate management are critical.5
PH1 may result in
Recurrent kidney stones
Progressive kidney damage1,2
Be challenging to diagnose and difficult to manage6,7
Present at any age4
Affect both children and adults4
and progression of PH1 is heterogeneous and can vary greatly, even among those with the same mutation or members of the same family.4,5
For some time, management of PH1 has been limited to non-curative methods.8,9 These include:
Drinking large amounts of water does not reduce oxalate levels but can help prevent calcium oxalate crystal formation. The recommended volume for adults and adolescents is 17 cups of water every day.10,11
Stone removal surgeries
These surgeries provide a short-term solution to a chronic problem—they do not address the underlying cause of oxalate overproduction.9
Pyridoxine (vitamin B6)
Approximately one-third of patients respond to pyridoxine because its mechanism only works in specific mutations of the gene associated with PH1.6,7,10,12-14
Oral potassium citrate, oral sodium citrate, or orthophosphate can reduce the risk of stone formation but do not address PH1 patients' underlying overproduction of oxalate.10
In a study, approximately 78% of PH1 patients required a kidney stone removal surgery at least once, with many patients requiring multiple surgeries.14
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Lai C et al. Specific inhibition of hepatic lactate dehydrogenase reduces oxalate production in mouse models of primary hyperoxaluria. Mol Ther. 2018;26(8):1983-1995.
Hoppe B et al. The primary hyperoxalurias. Kidney Int. 2009;75(12):1264-1271.
Sas DJ, Lieske JC. New insights regarding organ transplantation in primary hyperoxaluria type 1. Kidney Int Rep. 2021;7(2):146-148.
Cochat P, Rumsby G. Primary hyperoxaluria. N Engl J Med. 2013;369(7):649-658.
Fargue S, et al. Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1. Kidney Int. 2009;76(7):767-773
Hopp K et al. Phenotype-genotype correlations and estimated carrier frequencies of primary hyperoxaluria. J Am Soc Nephrol. 2015;26(10):2559-2570.
van Woerden CS et al. Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int. 2004;66(2):746-752.
Shee K, Stoller M. Perspectives in primary hyperoxaluria - historical, current and future clinical interventions. Nat Rev Urol. 2022;19(3):137-146.
Shah A, Ramakrishnan S, Leslie S. Hyperoxaluria. StatPearls. April 17, 2023. Accessed September 14, 2023. https://www.statpearls.com/point-of-care/23199.
Sas DJ et al. Recent advances in the identification and management of inherited hyperoxalurias. Urolithiasis. 2019;47(1):79-89.
Lawrence JE, Wattenberg DJ. Primary hyperoxaluria: the patient and caregiver perspective. Clin J Am Soc Nephrol. 2020;15(7):909-911.
Harambat J et al. Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010;77(5):443-449.
Mandrile G et al. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int. 2014;86(6):1197-1204.
Danese D, et al. Understanding the burden of primary hyperoxaluria type 1 (PH1): a survey of physician experiences with PH1. Poster presented at: IPNA 18th Congress; October 17-21, 2019; Venice, Italy.