Q87.81
Alport syndrome
Clinical Classification Guidelines
Use Additional Code
- code to identify stage of chronic kidney disease (N18.1-N18.6)
Medical Intelligence & Overview
Alport syndrome is a genetic disorder that primarily affects the kidneys, eyes, and ears. It is characterized by progressive damage to these organs, leading to potential hearing loss, vision problems, and kidney failure. This condition is inherited in an X-linked manner most commonly but can also be passed through autosomal recessive and dominant patterns. Early diagnosis and management are essential to slow disease progression and improve quality of life.
Causes & Symptoms
Clinical Causes: Genetic mutations affecting type IV collagen production, which is vital for the structural integrity of the basement membranes in kidneys, eyes, and ears. Inheritance typically occurs through an X-linked dominant pattern, meaning males are often more severely affected, though females can also show symptoms. Rare cases involve autosomal recessive inheritance resulting from mutations in other genes related to collagen production.
Key Symptoms: Progressive sensorineural hearing loss, often beginning in late childhood or adolescence. Eye abnormalities such as anterior lenticonus (cone-shaped lens), cataracts, and retinal flecks. Renal symptoms including hematuria (blood in urine), proteinuria, and eventually chronic kidney disease or failure. Other signs may include hypertension and swelling due to kidney dysfunction.
Diagnostic & Treatment
Diagnosis Path: Urinalysis revealing persistent hematuria and proteinuria. Auditory testing to assess hearing loss. Eye examinations to identify characteristic ocular changes. Genetic testing to detect mutations in COL4A3, COL4A4, or COL4A5 genes. Renal biopsy may help in ambiguous cases, highlighting specific basement membrane abnormalities under electron microscopy.
Treatment Protocols: Use of angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) to reduce proteinuria and protect kidney function. Monitoring hearing and providing hearing aids or cochlear implants as needed. Regular eye examinations to detect and address ocular complications. Managing blood pressure and other cardiovascular risk factors. In advanced kidney failure, dialysis or kidney transplantation may become necessary.
Clinical Advice & FAQs
Billing Guidance
Is Q87.81 a billable ICD-10 code?
Yes, Q87.81 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report Q87.81?
Clinical documentation must specify the nature of Alport syndrome and any associated comorbidities for accurate reporting.
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