کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4129315 1270960 2008 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Coexpression des chaînes alpha5 et alpha2 (IV) : une technique de choix pour le diagnostic de syndrome d'Alport à partir d'une biopsie cutanée
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی آسیب‌شناسی و فناوری پزشکی
پیش نمایش صفحه اول مقاله
Coexpression des chaînes alpha5 et alpha2 (IV) : une technique de choix pour le diagnostic de syndrome d'Alport à partir d'une biopsie cutanée
چکیده انگلیسی
We describe a simple procedure to use skin biopsies for the diagnosis of Alport syndrome. The technique is based on the codetection of alpha5 and alpha2 chains of collagen IV along the basal lamina of epidermis through an immunfluorescence technique. Eighty-five per cent of the cases of Alport syndrome are due to a mutation in the gene COL4A5, located on chromosome X, encoding the alpha5 chain of collagen IV. In this situation, the tissue expression of alpha5 chain is abnormal; in males, the absence of expression of alpha5 chain is pathognomonic for Alport syndrome; in females, the expression of alpha5 chain may be discontinuous because of X inactivation. The alpha2 chain is used as a positive control. We have studied skin biopsies from 55 patients (35 females, 20 males) with a suspicion of Alport syndrome, along with five controls. Immunofluorescence was performed on frozen tissue samples; for lecture, epifluorescence and confocal microscopy were compared. In controls, both chains were codetected. In nine males out of 20, the expression of alpha5 was undetectable; it was preserved in the remaining cases. In female patients, the expression was discontinuous in 16 cases and undetectable in one. There was no difference in sensitivity between the two microscopic techniques. The codetection of alpha5 and alpha2 chains of collagen IV in frozen skin biopsies is therefore proposed as a simple technique to diagnose Alport syndrome, but requires a good knowledge of the conditions of interpretation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Annales de Pathologie - Volume 28, Issue 3, June 2008, Pages 182-186
نویسندگان
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