Remember the words Alport syndrome from your textbooks? Perhaps this seemed an attempt to stump you on an exam. As an audiologist and Alport patient with hearing loss, I hope to emphasize the role audiologists can play in helping provide critical early diagnosis for patients.
Alport syndrome is a rare, genetic renal disease, often accompanied by hearing loss. The mechanism of hearing loss remains understudied. Misdiagnosis is common. Recent research suggests Alport syndrome may be more common than initially thought.
Frequently, the onset of hearing loss leads to correct diagnosis. Still, many audiologists do not put hearing loss together with kidney disease, causing further delay in treatment.
We can have major impact on a patient’s life by getting them properly diagnosed. The following is a reminder list of signs and symptoms:
- Bilateral sensorineural hearing loss
- Cookie bite audiogram
- Initial loss of low and mid frequencies
- Onset of hearing loss in early childhood
- Females in their 40s–60s with kidney disease
In these cases, I encourage you to ask about history of hematuria or family kidney disease. Please encourage patients to get a simple urinalysis test and send a referral note to their primary-care physician.
CONTENT PROVIDED BY ALPORT SYNDROME FOUNDATION.