遗传性大疱性表皮松解症累及泌尿系统1例报道及文献复习

目的探讨遗传性大疱性表皮松解症(EB)患者泌尿生殖系统并发症的诊疗方案。方法通过诊治1例EB并发泌尿生殖系统病变患者,总结体会并复习相关文献。结果患者男性,14岁,属于3种分型中的隐性营养不良型。泌尿系统病损重点在前尿道黏膜破损,梗阻累及膀胱及上尿路。通过临时留置导尿管,尿道梗阻缓解,3个月后随访彩超示肾积水改善,20个月后随访积水未加重。结论 EB累及泌尿系统临床罕见。透射电镜检查是原发病最重要的诊断方法。针对原发病目前尚无有效治疗方法。泌尿生殖系统并发症的检查和治疗应尽量减少尿路粘膜破坏,通畅引流,保护肾功能。

Epidermolysis bullosa with symptoms of genitourinary system: a report of 1 case and literature review

Objective To explore the diagnosis and treatment of epidermolysis bullosa （EB） with symptoms of genitouri- nary by reporting one case. Methods The diagnosis EB case was confirmed. Relevant literature was then reviewed. Results The patient was a 14-year old boy, suffering from recessive dystrophic epidermolysis bullosa. The major impairment in urina- ry system was mucosa damage in anterior urethra, which led to obstruction in both bladder and upper urinary tract. The ob- struction in the urinary tract was relieved with Foley catheterization. Ultrasonography results indicated that hydronephrosis was improved after 3 months, and remained stable in 20 months. Conclusion Genitourinary involvement in epidermolysis bullosa is a rare hereditary disease. Transmission electron microscope is the most important diagnostic method for EB. No effective treatment has been established. When some invasive exams and treatments are going to be performed, special care to urinary tract mucosa should be taken.