Original InvestigationsA comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome★
Section snippets
Patients and methods
We identified all patients with typical clinical features of Alport's syndrome or a lamellated GBM known to our two city and two provincial hospitals. Two authors (J.S. and D.C.) examined all index cases and their family members. The study also included a family referred from elsewhere with presumed autosomal recessive disease.
In addition, we examined individuals with TBMD diagnosed when their average GBM width was less than 250 nm, as well as their families, if hematuria segregated with the
Results
Twenty-three families with the presumptive diagnosis of Alport's syndrome were studied. Families were of northern and southern European, Chinese, and Indochinese origins. All hematuria shown in any individual was dysmorphic (or glomerular) in nature.
Only one person invited to take part, a child, refused to participate fully and was examined, but would not provide a buccal brushing. Nevertheless, she was presumed to be a carrier of X-linked Alport's syndrome because her father was affected and
Discussion
This study compared clinical, histopathologic, and ultrastructural characteristics of an unselected series of carriers of X-linked and autosomal recessive Alport's syndrome who had been identified by haplotype analysis. Most previously published descriptions of carrier phenotypes did not distinguish between X-linked and autosomal recessive disease12, 13, 14, 15, 16 and probably consisted of both forms of inheritance, as well as some individuals who did not have Alport's syndrome. Even series in
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Supported in part by the National Health and Medical Research Council of Australia and the Australian Kidney Foundation.
Address reprint requests to Judy Savige, PhD, MD, University Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, Vic 3084, Australia. E-mail: [email protected]
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