摘要
Netheton综合征是一种严重的常染色体隐性遗传病，其预后较差死亡率高，目前尚无有效的治疗方案。研究发现，Nethetn综合征的发生可能与SPINK5突变导致的LEKTI缺陷和皮肤屏障功能障碍有关。免疫组化检测LEKTI、SPINK5基因突变分析对Netheton综合征的诊断有重要意义，胚胎植入前遗传学诊断可用于Netheton综合征的产前筛查，并有效避免患病新生儿的出生。以往对Netheton综合征的治疗以对症处理为主，随着Netheton综合征遗传学的研究进展，基因转移、局部给予LEKTI生物活性碎片和免疫球蛋白替代疗法可能是将来的发展方向。
Netherton syndrome （NS） is a severe autosomal recessive genetic disorder with a bad prognosis and high mortality. There has been no effective treatment for it so far. Some studies have found that NS is caused by mutations in the SPINK5 gene, which may lead to LEKTI defect and skin barrier dysfunction. Immunohistochemical detection of LEKTI and mutation analysis of SPINK5 gene have important implications for the diagnosis of NS. Moreover, preimplantation genetic diagnosis （PGD） is available for the prenatal screening of NS and may avoid the birth of sick infants effectively. In the past, NS was mainly managed with symptomatic treatment. With progress in the genetics of NS, some approaches have brought new hopes for NS patients, such as gene transfer, topical delivery of LEKTI bioactive fragments, immunoglobulin replacement therapy, and so on.
出处
《国际皮肤性病学杂志》
2013年第6期390-393,共4页
International Journal of Dermatology and Venereology
