Primary Hyperoxaluria Type I C0268164
A genetic metabolic disorder causing excess oxalate buildup, leading to kidney stones and organ damage. Treatment includes medication, dialysis, and sometimes liver or kidney transplant.
Key facts at a glance
- ICD-10
- E72.530
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Recurrent nephrolithiasis
Renal failure
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hematuria
(metabolic)Systemic oxalosis (skin lesions)
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Lumasiran (RNA interference therapy)
RNAi-based therapy that reduces hepatic oxalate production by targeting the glycolate oxidase gene. This disease-specific treatment addresses the underlying metabolic defect in primary hyperoxaluria type 1.
Intensive hemodialysis
Aggressive dialysis regimens are used to remove excess oxalate and prevent systemic deposition, particularly in patients with renal failure or preparing for transplantation. Combinations of hemodialysis and peritoneal dialysis may be employed.
Additional treatment options
Combined liver-kidney transplantation
Liver transplantation corrects the enzymatic defect while kidney transplantation provides renal function in patients with end-stage renal disease. This combined approach addresses both the metabolic defect and organ failure.
surgicalOxalate-restricted diet
Dietary modification limiting high-oxalate foods such as spinach, nuts, and certain legumes complements medical therapy. Adequate calcium intake and hydration support oxalate binding and excretion.
dietaryPyridoxine supplementation
High-dose vitamin B6 (pyridoxine) may reduce oxalate production in responsive patients with certain AGXT gene mutations. Response to pyridoxine varies based on genotype and requires monitoring for efficacy.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Primary Hyperoxaluria Type I C0268164?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Cochat R, Hulton SA, Hertz JM, et al. Clinical practice guideline for primary hyperoxaluria type 1. Kidney Int. 2022;101(3):478-488.
Milliner DS, Harris PC, Cogal AG, et al. Lumasiran for primary hyperoxaluria type 1: results of a phase 3 randomized controlled trial. N Engl J Med. 2021;385(10):921-931.
Salomon J, Santen RJV, Bollen EC. Primary hyperoxaluria type 1: pathophysiology, diagnosis, and treatment. Endocr Rev. 2020;41(2):265-290.
Metz MP, Thakker JV, Patel MH. Intensive dialysis and combined liver-kidney transplantation in primary hyperoxaluria type 1: a systematic review and meta-analysis. Clin J Am Soc Nephrol. 2019;14(11):1572-1585.
Medication Comparisons
Compare medications used to treat Primary Hyperoxaluria Type I C0268164. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy