Authors: Stejskal J. Krejčová; Š.; J. Dušek; A. Kolský Authors‘ workplace: Ústav patologické anatomie 2. LF UK, Praha, přednosta prof. MUDr. R. Kodet, CSc. Ústav biologie a lékařské genetiky 2. LF UK, Praha, přednosta prof. MUDr. P. Goetz, CSc. I. dětská klinika FN Motol, Praha, přednosta doc. MUDr. J. Janda, CSc. Dětská klinika Published in: Čes.-slov. Patol., , 1999, No. 4, p. 122-132 Category:
An overview of immunohistological and molecular genetic methods for diagnosis of Alport syn-drome (AS) is given with practical experience from groups of authors’ observations. Immunofluo-rescent investigation using antibodies against alfa chains of collagen IV was performed oncryostat sections from 29 punction nephrobiopsies and 9 skin excisions taken for support ofdifferential diagnosis of AS particularly against the thin membranes glomerulopathy. Alfa chainsdeviations in other renal diseases were followed in another 14 cases. Molecular genetical investi-gation of AS by an indirect DNA diagnostics was performed in 35 families with presumed AS andin 27 patients with probable mutation a mutation screening of COL4AS gene by a direct methodSSCP was made. The mutation was proved in 10 cases. Because of genotypical and phenotypicalvariability of AS the diagnostic gain only increases when all the accessible methods are combined.
Key words: Alport syndrome - heredity - collagen IV - electron microscopy - immunohistology -mutation - binding analysis
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