Diagnosis of Alport syndrome
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چکیده
chain altered distribution in a much higher proportion of patients with X-linked AS [5]. It is our experience that skin biopsy, examined with conventional, and if needed, with confocal microscopy, is able to virtually detect (almost) all cases of X-linked AS [5], thus allowing to avoid or to postpone more invasive and/or expensive diagnostic procedure like renal biopsy and genetic investigations, which, in addition, are not diagnostic in all cases.
منابع مشابه
Skin biopsy for the diagnosis of Alport syndrome.
Alport syndrome (AS) is the most common hereditary nephritis often associated with extrarenal manifestations. It was first described by Alport on 1927. There is a primary disorder in collagen type IV which is the main component of the basement membranes. Alport syndrome is more frequently inherited as an X-linked and less commonly as an autosomal dominant or autosomal recessive trait. We descri...
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Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%). Many renal physicians think of Alport syndrome as primarily affecting men. However, twice as many women are affected by the X-linked diseases. Affected women are commonly undiagnosed, but 15%-30% develop renal fai...
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تاریخ انتشار 2010