角膜炎、鱼鳞病、耳聋综合征临床及机制的研究进展

Keratitis-ichthyosis-deafness syndrome： clinical aspects and pathogenesis

角膜炎、鱼鳞病、耳聋综合征是一种罕见的遗传病,主要表现为血管性的角膜炎、鱼鳞病以及先天性感音神经性耳聋.该病具有对真菌及细菌的天然易感性,严重者可出现混合感染,并常伴发肿瘤.研究表明,其发病及并发肿瘤主要与连接蛋白26的基因突变相关,且不同位点的突变存在不同的临床表现.近年来角膜移植术、耳蜗植入术、维A酸类药物以及贝伐单抗治疗对某些患者有一定的疗效,但完整的抗感染及恶性肿瘤的治疗体系必不可少.

Keratitis-ichthyosis-deafness （KID） syndrome is a rare genodermatosis characterized by vascular keratitis,ichthyosis and congenital sensorineural deafness.Patients with KID syndrome have a natural susceptibility to fungal and bacterial infection,and mixed infection may occur in severe cases.Tumors often coexist with this syndrome.Studies indicate that the development and complicating tumors of KID syndrome are related to mutations in the connexin 26 gene,and mutations at different loci are associated with different clinical manifestations.In recent years,some treatments （such as keratoplasty,cochlear implantation,retinoids and bevacizumab） have somewhat worked in some patients,but complete treatment system should include therapies against infection and malignancy.