E72.53
Primary hyperoxaluria
Clinical Classification Guidelines
Inclusion Terms
- Oxalosis
- Oxaluria
Excludes Type 1
- secondary hyperoxaluria (E72.54-)
Medical Intelligence & Overview
Primary hyperoxaluria is a rare genetic disorder characterized by excessive production of oxalate, a substance normally eliminated by the kidneys. This condition can lead to the formation of kidney stones and, over time, cause serious kidney damage. Being aware of its causes, symptoms, diagnosis methods, and treatment options is important for understanding this complex condition.
Causes & Symptoms
Clinical Causes: Inherited genetic mutations affecting enzymes involved in glyoxylate metabolism Auto-recessive inheritance pattern, meaning both parents must pass on the defective gene Deficiency in specific liver enzymes, like alanine-glyoxylate aminotransferase (AGT) Type 1 primary hyperoxaluria, the most common form, caused by mutations in the AGXT gene Less common types caused by mutations in other genes, such as GRHPR and HOGA1
Key Symptoms: Recurrent kidney stones, often starting in childhood Blood in urine (hematuria) Pain in the back or sides due to kidney stone passage Frequent urinary tract infections Nausea and vomiting related to kidney issues Progressive kidney failure in advanced stages Oxalate deposits in tissues, leading to oxalosis, which may affect the skin, bones, eyes, and other organs
Diagnostic & Treatment
Diagnosis Path: Diagnosing primary hyperoxaluria involves a combination of laboratory tests and imaging studies. Tests may include:
Treatment Protocols: Managing primary hyperoxaluria aims to reduce oxalate levels and prevent kidney damage. Treatment strategies include:
Clinical Advice & FAQs
Billing Guidance
Is E72.53 a billable ICD-10 code?
Yes, E72.53 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E72.53?
Clinical documentation must specify the nature of Primary hyperoxaluria and any associated comorbidities for accurate reporting.
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