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

• Main Authors: Neslihan Cicek (Author), Nurdan Yildiz (Author), Ruslan Asadov (Author), Ayse Deniz Yucelten (Author), Halil Tugtepe (Author), Harika Alpay (Author)
• Format: Book
• Published: Mattioli1885, 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.5826/dpc.1103a51; 2160-9381
• Keywords: epidermolysis bullosa; peritoneal dialysis; urinary involvement; end stage renal disease; Dermatology; RL1-803
• Source: Dermatology Practical & Conceptual (2021)

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.