End Stage Renal Disease in a Child with Epidermolysis Bullosa

Abstract

Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through several mechanisms, mainly immunological ones. The present case described a young male with dystrophic recessive EB who developed an advanced chronic renal damage secondary to tubulointerstitial nephritis that was demonstrated by a renal biopsy. Unpublished previously, this complication should be considered among the possible causes of renal damage in EB. Also it is recommended a protocoled surveillance of renal and urinary tract complications in children with EB.

Renal involvement in epidermolysis bullosa patients: a case series study

“…Patients are periodically evaluated for cutaneous and extracutaneous manifestations, including renal function. 5 Laboratory tests (blood and urine) are performed in patients with suspicion of renal involvement, in the urine exam. If available, urine tests should be taken when a sphincter control is obtained since the use of probes or collectors (by adhesives) in patients with EB are not recommended.…”