ArticlePediatric nephrology (Berlin, Germany)2007
Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome.
Article in Pediatric nephrology (Berlin, Germany), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 6 citations in OpenAlex.
- Women and Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2012Review
- Alport syndrome: significance of gingival biopsy in the initial diagnosis and periodontal evaluation after renal transplantation.Journal of applied oral science : revista FOBArticle
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Authors and funding
4 authors at 3 institutions in 1 country.
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Abstract
Alport syndrome (AS) is the most common form of hereditary nephritis. Females with X-linked AS are heterozygous carriers of the disease mutation. Carrier status in females without a family history has traditionally been diagnosed by kidney biopsy; more recently skin biopsy has been utilized. We report on a 14-year-old girl with long-standing hematuria and intermittent proteinuria who underwent kidney and skin biopsy to establish a definitive diagnosis. Electron microscopy showed extensive thinning of glomerular basement membrane (GBM), with no evidence of lamination. Immunofluorescence staining showed continuous GBM staining for the alpha3(IV) and alpha5(IV) collagen chains, whereas the epidermal basement membrane showed discontinuous alpha5(IV) collagen staining consistent with an X-linked carrier of AS. Few reports have shown discordance between kidney and skin biopsy findings as seen in this case, presumably due to X chromosome lyonization. We therefore suggest that simultaneous kidney and skin biopsies may be more accurate in the assessment of potential female carriers of AS than either kidney biopsy or skin biopsy alone.
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