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He was involved in the early characterization of what came to be known as Alport syndrome.
Some types of Alport syndrome may also affect vision and hearing.
Young men with Alport syndrome should use hearing protection in noisy environments.
In Alport syndrome, there is often a family history of kidney failure, which may be associated with hearing impairment.
Alport syndrome is an inherited form of kidney inflammation (nephritis).
House tells her that Drew died of Alport syndrome.
Alport syndrome can have different inheritance patterns that are dependent on the genetic mutation.
Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys.
Alport syndrome can also affect the eyes (lenticonus).
Samoyed hereditary glomerulopathy, a disease shown to be a model for Alport syndrome.
Also, males tend to be more affected as Alport syndrome it is X-linked in most cases.
Healthy female carriers of a gene for the Alport syndrome: importance for genetic counseling.
Genetic defects in the collagen fibers of the basement membrane cause Alport syndrome.
Most cases of Alport syndrome have an X-linked pattern of inheritance.
Clinical utility gene card for: Alport syndrome.
Alport syndrome; glomerulonephritis, endstage kidney disease, and hearing loss.
Mutations to the genes coding for type-IV collagen lead to Alport syndrome.
The clinical features of autosomal dominant Alport syndrome are similar to those of X-linked disease.
Fechtner syndrome is a variant of Alport syndrome with leukocyte inclusions and macrothrombocytopenia.
Some individuals with TBMD are thought to be carriers for genes that cause Alport syndrome.
MHA is also a feature of the Alport syndrome (hereditary nephritis with sensorineural hearing loss).
Also, there are no systemic manifestations, so presence of hearing impairment or visual impairment should prompt a search for hereditary nephritis such as Alport syndrome.
Thin basement membrane disease must be differentiated from the other two common causes of glomerular hematuria, IgA nephropathy and Alport syndrome.
FSGS may be primary or secondary to reflux nephropathy, Alport syndrome, heroin abuse or HIV.
Other renal causes of isolated hematuria include thin basement membrane disease and Alport syndrome, the latter being a hereditary disease associated with hearing impairment and eye problems.