E79.82
Hereditary xanthinuria
Clinical Classification Guidelines
Medical Intelligence & Overview
Hereditary xanthinuria is a rare genetic disorder affecting how the body processes certain chemicals called purines. It leads to a build-up of xanthine, a substance that can cause kidney stones and other health issues. Individuals with this condition inherit the disorder from their family, and it is typically diagnosed in childhood or early adulthood.
Causes & Symptoms
Clinical Causes: Inherited gene mutation affecting the enzymes responsible for purine breakdown Autosomal recessive inheritance pattern, meaning both parents must carry the gene mutation
Key Symptoms: Frequent development of kidney stones, often in the form of pain in the back or sides Blood in the urine (hematuria) Difficulty passing urine or a sense of incomplete bladder emptying Recurrent urinary tract infections Potentially, episodes of severe pain during renal colic In some cases, no noticeable symptoms until complications arise
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of blood and urine tests to measure levels of xanthine, uric acid, and other purines. Imaging tests like ultrasound or CT scans may be used to identify kidney stones. Genetic testing can confirm mutations in specific genes associated with the disorder. Early diagnosis is important for managing and preventing complications.
Treatment Protocols: Management focuses on preventing and controlling kidney stone formation. This may include dietary modifications such as reducing intake of purine-rich foods, maintaining adequate hydration to dilute urine, and monitoring urinary health regularly. In some cases, medications to alter urine composition or prevent stone formation may be prescribed. Regular follow-up with healthcare providers is essential to monitor the condition.
Clinical Advice & FAQs
Billing Guidance
Is E79.82 a billable ICD-10 code?
Yes, E79.82 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E79.82?
Clinical documentation must specify the nature of Hereditary xanthinuria and any associated comorbidities for accurate reporting.
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