Correlation between the mode of inheritance and the expression of type IV collagen α5 (IV)) in epidermal basement membrdane in family members of Alport syndrome was studied using an Alport-specific antibody probe (anti-α5 (IV) monoclonal
antibody).
@ES And the results were as follows;
@EN 1) Among total 31 pamilies studied, 22 families (71.0%) showed X-linked dominant inheritance, and 4 families 912.9%) showed autosomal inheritance. And 5 patients were sporadic cases without any family history of renal disease, deafness or
ocular
defect.
2) The incidence of end-stage renal disease, deafness and ocular defect in family members showed no significant difference according to the mode of inheritance.
3) Defect of α5 (IV0 antigen in the epidermal basement membrane was detected in 20 families (90.9%) with X-linked dominant inheritance, in 4 sporadic cases (80.0%), and in none with autosomal inheritance.
These findings suggest that Alport syndrom with autosomal inheritance, in contrast to Alport syndrome with X-linked dominant inheritance, in not directly related with α5 (IV0 chain defect but with, probably, α3 (IV) and/or α4 9IV0 defects.
However,
the clinical features are not different from each other.
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