累及泌尿系的大疱性表皮松解症的临床研究进展

Clinical progress of epidermolysis bullosa involving urinary system

大疱性表皮松解症是一组罕见的遗传性疾病,病变除涉及皮肤组织外,还可累及泌尿系统,但因其发病率较低、临床对其认识不足,起病初期容易被忽视,待引起重视时往往已发展到肾功能障碍或尿道狭窄的程度,失去了早期干预的时机,不仅给治疗带来了难度,也给患者增加了身心上的痛苦。因此,本文从发病机制、分类、诊断、治疗等方面对累及泌尿系的大疱性表皮松解症作一综述,希望为临床诊疗提供借鉴。

Epidermolysis bullosa is a rare group of hereditary diseases.Besides skin tissue,the lesions can also involve the urinary system.However,due to its low incidence rate and lack of clinical recognition,it is easy to be ignored in the early stage of onset.When it is paid attention to,it often has developed to the degree of renal dysfunction or urethral stricture,and the opportunity for early intervention is lost.This not only brings difficulties to treatment,but also increases physical and mental pain to patients.This article reviewed the pathogenesis,classification,diagnosis and treatment of epidermolysis bullosa involving the urinary system,in order to provide reference for future clinical diagnosis and treatment.