Renal biopsy interpretation in Alport syndrome
Renal biopsy interpretation in Alport syndrome
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DOI：
10.1053/sdia.2002.34251
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发表时间：
2002-08-01
影响因子：
2.3
通讯作者：
Monga, G
中科院分区：
文献类型：
--
作者：
Mazzucco, G;De Marchi, M;Monga, G
Alport综合征是一种遗传性进行性肾病，尽管有大量已发表的研究，但由于其遗传、临床、免疫组化和超微结构的异质性，仍然是一个诊断挑战。讨论的重点是电子显微镜和免疫组化Col（IV）链。薄肾小球基底膜疾病的鉴别诊断进行了深入讨论，因为两者都是家族性的，可以有相似的临床表现，甚至超微结构病理，但有不同的结果。分子遗传学的诊断作用，其中确定了存在的IV型胶原基因突变及其与肾损伤的表型表达的关系，也进行了讨论。版权所有2002，爱思唯尔科学（美国）。All rights reserved.
Alport Syndrome is a heritable progressive renal disease that, despite the large number of published studies, because of its genetic, clinical, immunohistochemical, and ultrastructural heterogeneity, still remains a diagnostic challenge. The focus of the discussion is on electron microscopy and immunohistochemistry Col (IV) chains. The differential diagnosis from thin glomerular basement membrane disease is discussed in depth, because both are familial, and can have similar clinical presentation and even ultrastructural pathology, but with a different outcome. The diagnostic role of molecular genetics, which identified the presence of collagen IV gene mutations and its relationship to the phenotypic expression of the renal damage, is also discussed. Copyright 2002, Elsevier Science (USA). All rights reserved.