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

Abstract

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.

Bone marrow transplantation and bone marrow‐derived mesenchymal stem cell therapy in epidermolysis bullosa: A systematic review

“…The glomerular disease may be caused by chronic systemic inflammation and urinary tract epithelial lining blister formation. 27,28 This finding supports our observation that renal insufficiency was the second most prevalent complication in RDEB patients. Several factors might be related to the development of renal insufficiency in RDEB patients, such as pre-existing renal insufficiency (observed in one patient even before transplantation), sepsis-induced AKI, or nephrotoxic agents.…”

“…Nephropathy is a significant complication of EB, especially severe RDEB. The glomerular disease may be caused by chronic systemic inflammation and urinary tract epithelial lining blister formation 27,28 . This finding supports our observation that renal insufficiency was the second most prevalent complication in RDEB patients.…”

Severe hyponatremia in an infant with epidermolysis bullosa: a case report

“…Hence, the immune system will produce antibodies and inflammatory markers. This inflammatory response may cause a variety of diseases, including a tendency to develop chronic inflammations [6,7], infections, sepsis, electrolyte imbalances, nonhealing wounds or lesions [8], and multiorgan damage (skin, kidney, colon, and heart) [9,10]. Although the immune system plays a major role in this state by hyperinflammatory response, also immunocompromised condition and using systemic or topical corticosteroid medicine complicate the treatment of EB [11,12].…”