E72.538
Other specified primary hyperoxaluria
Clinical Classification Guidelines
Inclusion Terms
- Primary hyperoxaluria, type 2
- Primary hyperoxaluria, type 3
Medical Intelligence & Overview
Other specified primary hyperoxaluria is a rare genetic disorder characterized by excessive production of oxalate in the body. This excess can lead to the formation of kidney stones, kidney damage, and other related health issues. Unlike more common types, this specific form of hyperoxaluria is categorized under a broader classification that includes primary hyperoxaluria Types 2 and 3. Recognizing this condition early can be crucial for managing symptoms and preventing serious complications.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting enzymes responsible for oxalate metabolism Inherited in an autosomal recessive pattern, meaning both parents must pass on the defective gene Mutations linked to specific genes involved in glyoxylate and hydroxyproline metabolism
Key Symptoms: Frequent formation of kidney stones, especially in the form of calcium oxalate stones Repeated urinary tract infections Hematuria, which is blood in the urine Pain in the side or lower back due to kidney stones or damage Potential signs of kidney failure in advanced cases Persistent fatigue and weakness related to kidney function decline
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of laboratory tests, imaging, and genetic analysis. Urinalysis can reveal elevated oxalate levels, while blood tests may show signs of impaired kidney function. Genetic testing confirms specific mutations associated with primary hyperoxaluria Types 2 and 3. Imaging studies, such as ultrasounds or CT scans, can identify kidney stones or kidney damage. A detailed medical history and family history are important to determine inherited patterns.
Treatment Protocols: While there is no cure for primary hyperoxaluria, several management strategies can help limit complications and improve quality of life. These may include:
Clinical Advice & FAQs
Billing Guidance
Is E72.538 a billable ICD-10 code?
Yes, E72.538 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E72.538?
Clinical documentation must specify the nature of Other specified primary hyperoxaluria and any associated comorbidities for accurate reporting.
Cite this Clinical Reference