Alport syndrome
ICD-10 Q87.81 is a billable code used to indicate a diagnosis of alport syndrome.
Alport syndrome is a genetic disorder characterized by progressive kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in genes responsible for the production of type IV collagen, which is essential for the structural integrity of various tissues, including the kidneys, ears, and eyes. Clinically, patients may present with hematuria, proteinuria, and progressive renal impairment, often leading to end-stage renal disease. Hearing loss typically manifests in late childhood or early adolescence, while ocular abnormalities may include lenticonus and retinal flecks. The condition follows an X-linked inheritance pattern in most cases, although autosomal recessive and dominant forms exist. Diagnosis is often confirmed through genetic testing and family history assessment. Management focuses on monitoring renal function, managing complications, and providing supportive care, including hearing aids and potential renal replacement therapy as needed.
Pediatric documentation should include growth parameters, developmental milestones, and any associated congenital anomalies.
Common scenarios include routine monitoring of renal function in children diagnosed with Alport syndrome and referrals for hearing assessments.
Pediatric coders should be aware of the age-related manifestations of the syndrome and the importance of early intervention.
Genetic documentation must include details of genetic testing, inheritance patterns, and family pedigree.
Genetic counseling sessions for families with a history of Alport syndrome and discussions about reproductive options.
Genetic coders should ensure accurate coding of the specific genetic mutations identified and their implications for family members.
Used for confirming diagnosis of Alport syndrome through genetic testing.
Documentation must include clinical indications for testing and results.
Genetic specialists should ensure that the testing aligns with clinical findings.
Genetic testing is crucial for confirming the diagnosis of Alport syndrome, determining the inheritance pattern, and guiding management and family counseling.
