Korean Journal of Nephrology 1994;13(2):250-257.
Alport 증후군에서 유전양식과 제 IV형 Collagen a5 Chain의 표현양상간의 상관에 대한 연구
정해일 , 하일수 , 최용 , 박혜원 , 이현순
Abstract
Correlation between the mode of inheritance and the expression of type IV collagen a5 chain (a5 (IV)) in epidermal basement membrane in family members of Alport syndrome was studied using an Alport-specific antibody probe (anti-a5 (IV) monoclonal antibody). And the results were as follows; 1) Among total 31 families studied, 22 families (71. 0%) showed X-linked dominant inheritance, and 4 familiea (12.9%) showed autosomal inheritance. And 5 patients were sporadic cases without any family history of renal disease, deafness or ocular defect. 2) The incidenee of end-stage renal disease, deafness and ocular defect in family members showed no signifi- cant difference according to the mode of inheritance. 3) Defect of a5 (IV) 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 syndrome with autosomal inheritance, in contrast to Alport syndrome with X-linked dominant inheritance, is not directly related with a5 (IV) chain defect but with, probably, a3 (IV) and/or a4 (IV) defects. However, the clinical features are not different from each other.
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