Kidney and Urinary Tract Involvement in Epidermolysis Bullosa: Is Routine Follow-Up Necessary?

BACKGROUND

Several renal and urinary tract complications have been reported in patients with epidermolysis bullosa.

OBJECTIVE

This study investigated kidney and urinary tract involvement in patients with epidermolysis bullosa.

PATIENTS AND METHODS

Patients with epidermolysis bullosa in treatment at the Dermatology Unit were included in the study. Glomerular and tubular functions were investigated.

RESULTS

The study included 16 patients (4 females, 12 males) of mean 11.1 years (SD = 8.1 years). Estimated GFR was normal in all patients except one with end-stage renal disease. Excluding this patient, the urinary albumin/creatinine ratio and the fractional excretion of sodium were normal. The mean beta-2 microglobulin/creatinine ratio was 278.8 μg/g, and it was abnormally high in 2 patients. The mean tubular phosphorus reabsorption was 92.6%; it was abnormally low in 1 patient. Severe kidney or urinary tract involvement was present in 2 patients with recessive dystrophic EB-generalized severe (RDEB-GS): one patient had obstructive bullous lesions in the urethra; the other had end-stage renal disease secondary to focal segmental glomerulosclerosis and was on peritoneal dialysis for 3 years.

CONCLUSIONS

Assessment for renal and urinary tract involvement should become a routine part of the evaluation of patients with any type of EB, but especially of patients with RDEB-GS. Patients with mild tubular dysfunction need long-term follow-up to detect early deterioration of renal function.