PRENATAL EXCLUSION OF PYLORIC ATRESIA JUNCTIONAL EPIDERMOLYSIS-BULLOSA SYNDROME

被引:22
作者
SHIMIZU, H
FINE, JD
SUZUMORI, K
HATTA, N
SHOZU, M
NISHIKAWA, T
机构
[1] UNIV N CAROLINA,SCH MED,CHAPEL HILL,NC
[2] NATL EPIDERMOLYSIS BULLOSA REGISTRY,CHAPEL HILL,NC
[3] NAGOYA CITY UNIV,SCH MED,DEPT OBSTET & GYNECOL,NAGOYA,AICHI 467,JAPAN
[4] KANAZAWA UNIV,SCH MED,DEPT DERMATOL,KANAZAWA,ISHIKAWA 920,JAPAN
[5] KANAZAWA UNIV,SCH MED,DEPT OBSTET & GYNECOL,KANAZAWA,ISHIKAWA 920,JAPAN
关键词
D O I
10.1016/S0190-9622(94)70205-5
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Background: The pyloric atresia-junctional epidermolysis bullosa (PA-JEB) syndrome is an autosomal recessive disorder with a poor prognosis. Electron microscopy of fetal skin has been the only reliable method for prenatal diagnosis. Objective: The purpose of this study was to make the prenatal diagnosis of PA-JEB syndrome with a more reliable method by means of immunocytochemical probes. Methods: Expression of a range of basement membrane antigens was examined in different types of JEB. On the basis of the results, a fetal skin biopsy specimen was obtained for prenatal diagnosis. Results: In PA-JEB syndrome (n = 2), GB3 antigen (BM600) was normally expressed; the 19-DEJ-1 antigen was completely absent. In fetal skin at risk for PA-JEB syndrome, the 19-DEJ-1 antigen was normally expressed, and no ultrastructural abnormality was found by electron microscopy. A normal male infant was delivered at 38 weeks of pregnancy. Conclusion: 19-DEJ-1 monoclonal antibody serves as a useful probe for the prenatal diagnosis of PA-JEB syndrome.
引用
收藏
页码:429 / 433
页数:5
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