Alport syndrome: Is diagnosis only skin-deep?
نویسندگان
چکیده
منابع مشابه
Is health only skin-deep?
The USA is witnessing a growing debate about the apparent disparities between the health status of white Americans and racial minorities, most notably African Americans and Hispanics. In 1993, the US government admitted that there are significant differences and responded by establishing the Minority Health Initiative to investigate and redress these discrepancies. The National Cancer Institute...
متن کاملSkin 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...
متن کاملDiagnosis of Alport syndrome
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 investigation...
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Whilst the relationship between aspects of facial shape and attractiveness has been extensively studied, few studies have investigated which characteristics of the surface of faces positively influence attractiveness judgments. As many researchers have proposed a link between attractiveness and traits that appear healthy, apparent health of facial skin might be a property of the surface of face...
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The transcription factor HIF-1 mediates adaptive responses to hypoxia, and its activity is negatively regulated by O2-dependent binding of the von Hippel-Lindau (VHL) protein. In this issue, Boutin et al. (2008) use conditional knockout mice to demonstrate that sensing of O2 by keratinocytes in the epidermis leads to alterations in cutaneous blood flow that affect the production of the hormone ...
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ژورنال
عنوان ژورنال: Kidney International
سال: 1999
ISSN: 0085-2538
DOI: 10.1046/j.1523-1755.1999.00452.x