How does Alport syndrome affect hearing?
Progressive hearing loss (sensorineural deafness) occurs frequently in people with Alport syndrome. Sensorineural deafness results from impaired transmission of sound input from the inner ears (cochleae) to the brain via the auditory nerves. The hearing loss is bilateral, meaning it affects both ears.
How do you manage Alport syndrome?
Currently, there is no specific treatment for Alport syndrome. The goal is to treat the symptoms and help slow the progression of kidney disease….This may include:
- ACE inhibitor or ARB medicines (medications to control high blood pressure)
- Diuretics (water pills)
- Limit sodium (salt) in your diet.
What does Alport syndrome do?
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys.
Who treats Alport syndrome?
It is very important for people with Alport syndrome to be examined regularly by a nephrologist so that effects of kidney disease, such as hypertension (high blood pressure), can be identified early and treated. Regular evaluations of hearing and vision are also important.
How does Alport syndrome affect eyes?
Alport Syndrome is linked with certain lens abnormalities (also known as ‘anterior lenticonus’) which can lead to worsening eyesight and possibly cataracts (that may need removing). Some people may experience ‘corneal erosion’ which could give symptoms of dryness and itchiness.
Is Alport syndrome nephritic or nephrotic?
Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3, COL4A4, and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands.
What causes Alport syndrome?
Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a defect (mutation) in a gene for a protein in the connective tissue, called collagen. The disorder is rare.
Is Alport syndrome autoimmune?
Alport Syndrome is an autoimmune disorder affecting Type 4 Collagen that includes kidney disease, hearing loss, and eye abnormalities. The genetic disease classically also manifests with hematuria and proteinuria as the disease progresses to ESRD.
Does Alport syndrome cause pain?
Corneal erosion in which there is loss of the outer layer of the covering of the eyeball, leading to pain, itching, or redness of the eye, or blurred vision. Abnormal coloring of the retina, a condition called dot-and-fleck retinopathy. It doesn’t cause vision problems, but can help diagnose Alport syndrome.