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Axenfeld异常和Rieger异常及其综合征属于一组发育性疾病的临床变异,其特征有:(1)双眼发育性缺陷;(2)常有家族史,通常为常染色体显性遗传;(3)常伴有其他发育缺陷;(4)继发性青光眼的发病率较高。部分患者之间眼部和非眼部缺陷互相重叠,使按照传统标准进行分类发生困难。进行再分类似乎很少有临床价值,因此推荐使用Axenfeld-Rieger综合征这一集合名称代表此组疾病的各种变异。眼部缺陷受累的组织似乎源自神经嵴细胞而非中胚层。根据本综合征发病机理的新理论,推测在妊娠末3个月时,源于神经嵴细胞的组织发育停滞,其结果造成房水排出结构发育不全,此与青光眼的发生有关,原始上皮层发育停滞,则与虹膜角膜条带和虹膜赤道部改变有关。后一种改变在出生后可继续发展。鉴别诊断包括虹膜角膜内皮综合征和后部多形性萎缩,另外两种疾病在临床和组织病理方面的变化和Axenfeld-Rieger综合征非常相似。然而,这三种情虽然均累及共同的原始的始基但在发病机理方面似乎具有根本的不同。本综合征患者的治疗主要包括对继发性青光眼的治疗,此种青光眼是很难于控制的,通常需行手术治疗,并且要适当安排对其他发育异常的治疗。
Axenfeld’s abnormalities and Rieger’s abnormalities and their syndromes are clinical variants of a group of developmental disorders characterized by (1) binocular developmental defects, (2) frequent family history, usually autosomal dominant inheritance, (3) Often accompanied by other developmental defects; (4) the incidence of secondary glaucoma higher. Ocular and non-ocular defects overlap in some patients, making it difficult to classify according to the traditional criteria. Reclassification appears to be of little clinical value, so it is recommended to use the collective name Axenfeld-Rieger syndrome to represent various variants of this group of diseases. Tissues affected by eye defects appear to originate from neural crest cells rather than mesoderm. According to the new theory of the pathogenesis of this syndrome, it is speculated that at the end of the third trimester of pregnancy, neural crest cells from the development of the tissue stagnation, resulting in aqueous humor discharge structure hypoplasia, which is related to the occurrence of glaucoma, the original epithelial development Stagnation, then with the iris corneal stria and iris changes related to the equator. The latter change can continue to develop after birth. Differential diagnosis includes iris corneal endothelium syndrome and atrophy of the posterior pleura, the other two changes in clinical and histopathological changes are very similar to Axenfeld-Rieger syndrome. However, all three seem to have fundamentally different pathogenic mechanisms, though they all involve the common original primordium. The treatment of patients with this syndrome, including the treatment of secondary glaucoma, such glaucoma is difficult to control, usually require surgical treatment, and should be properly arranged for the treatment of other developmental disorders.