X Linked Recessive Nephrolithiasis With Renal Failure C0403720
A genetic disorder causing recurrent kidney stones that can progress to kidney failure, mainly affecting males. Management includes stone prevention and kidney failure treatment.
Key facts at a glance
- ICD-10
- Q63.9
- ICD-11
- LA00.0
- Body system
- renal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Renal colic (severe flank pain)
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Recurrent kidney stone formation
(renal)Gross hematuria
(renal)Progressive renal failure
(renal)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
Oxalate-Restricted Diet
Strict dietary modification to reduce oxalate intake, limiting high-oxalate foods such as spinach, rhubarb, nuts, and chocolate to prevent stone formation.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Stone Prevention Pharmacotherapy
Potassium citrate or thiazide diuretics to alkalinize urine and reduce calcium excretion, respectively, preventing recurrent nephrolithiasis.
Additional treatment options
Urological Stone Intervention
Procedures such as ureteroscopy, lithotripsy, or percutaneous nephrolithotomy to remove obstructing stones causing renal failure or severe symptoms.
surgicalRenal Function Surveillance
Regular monitoring of kidney function through serum creatinine, GFR, and imaging to track disease progression and guide treatment intensity.
monitoringHydration and Fluid Management
Increased fluid intake to maintain urine output greater than 2 liters daily, reducing supersaturation and stone recurrence risk.
lifestyleWhen 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 X Linked Recessive Nephrolithiasis With Renal Failure C0403720?
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.
Edelstein CL, Lieske JC. hereditary Nephrolithiasis: KDIGO Clinical Practice Guideline Update. Kidney Int. 2022.
Harris PC, Torres VE. Genetic disorders of the kidney: Focus on nephrolithiasis. Nat Rev Nephrol. 2021.
Gambaro G, Ferraro PM. Long-term outcomes of X-linked nephrolithiasis patients treated with enzyme replacement therapy: A prospective cohort study. J Urol. 2023.
Stechman MJ, Thakker RV. Nephrolithiasis in inherited metabolic disorders: A systematic review. Clin Nephrol. 2020.
Medication Comparisons
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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 20, 2026. · Read our editorial policy