Saad Emanuel José, Albertini Ricardo Arturo, Chiurchiu Carlos, Massari Pablo Ulises, De la Fuente Jorge Luis
Hospital Privado universitario de Córdoba Instituto de Ciencias Biomédicas de Córdoba.
Rev Fac Cien Med Univ Nac Cordoba. 2018 Mar 26;75(1):46-49. doi: 10.31053/1853.0605.v75.n1.17153.
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis characterized by abnormalities in the anchoring fibrils which attach the basal cell layer of the epidermis to the underlying structures. A characteristic feature of this disorder is the presence of recurrent blistering or erosions, the result of even minor traction to these tissues. Patients with RDEB frequently develop chronic renal failure, and require renal replacement therapy being a major cause of morbidity and mortality. The role of renal transplantation in these patients is scarcely known. We present the case of an end-stage renal disease patient with RDEB treated by renal transplantation and his follow-up during a period of 83 months after the transplant. In this period, there were very low frequency of serious infections as well as the absence of skin tumors. Renal transplantation could be an alternative to renal replacement therapy in epidermolysis bullosa patients with end-stage renal disease, reducing the comorbidities associated with this treatment.
隐性营养不良性大疱性表皮松解症（RDEB）是一种罕见的遗传性皮肤病，其特征是将表皮基底细胞层与下方结构相连的锚原纤维异常。这种疾病的一个特征是反复出现水疱或糜烂，即使是对这些组织的轻微牵拉也会导致这种结果。RDEB患者经常发展为慢性肾衰竭，需要肾脏替代治疗，这是发病和死亡的主要原因。肾脏移植在这些患者中的作用几乎不为人知。我们报告了一例终末期肾病的RDEB患者接受肾脏移植治疗及其移植后83个月随访情况。在此期间，严重感染的发生率非常低，且未出现皮肤肿瘤。对于终末期肾病的大疱性表皮松解症患者，肾脏移植可能是肾脏替代治疗的一种替代方法，可减少与该治疗相关的合并症。
