Le Bras A, David A, Knipping M, Mensier A, Heidet L, Lopes P
Service de Gynécologie A, CHRU, Nantes.
J Gynecol Obstet Biol Reprod (Paris). 1998 Sep;27(5):523-8.
We observed the cases of two young women who both developed esophageal and perineal tumors successively. The esophageal component usually is the first manifestation. Esophagectomy, with or without gastrectomy is generally required. The genital affection involves the periclitoridian region, the minora and majora labia. Tracheobronchial localization is less common, but it may be lethal due to bronchospasm. An association between diffuse leiomyomatosis and Alport syndrome is not fortuitous. Recently, molecular biology has enabled to understand the combination of the two pathologies by showing the presence of a deletion on adjacent X chromosome genes, COL4A5 and COL4A6, which are involved in the synthesis of type IV collagen fibres. Leiomyomatosis and Alport syndrome are transmitted as X-linked dominant traits. Women with diffuse leiomyomatosis transmit Alport syndrome. An antenatal diagnosis can be proposed for such patients.
我们观察了两名年轻女性的病例，她们均先后出现了食管和会阴肿瘤。食管病变通常是首发表现。一般需要进行食管切除术，可伴有或不伴有胃切除术。生殖器病变累及阴蒂周围区域、小阴唇和大阴唇。气管支气管定位较少见，但可能因支气管痉挛而致命。弥漫性平滑肌瘤病与阿尔波特综合征之间的关联并非偶然。最近，分子生物学通过显示相邻X染色体基因COL4A5和COL4A6存在缺失，从而能够理解这两种病理情况的结合，这两个基因参与IV型胶原纤维的合成。平滑肌瘤病和阿尔波特综合征以X连锁显性性状遗传。患有弥漫性平滑肌瘤病的女性会遗传阿尔波特综合征。可为这类患者提供产前诊断。
