Prevalence of Renal Dysfunction in Youth with Epidermolysis Bullosa

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Background: Little is known regarding the prevalence of renal disease in youth with epidermolysis bullosa (EB), which we describe here. Methods: We conducted a retrospective review of electronic health records of 170 (48.8% female, 51.2% male) EB patients aged < 25 years followed by our institution within years 1986-2019. We report the age-based prevalence of hematuria (≥ 1+ on urinalysis [UA] or ≥ 5 red blood cells per high power field) and proteinuria (≥ 30 mg/dL). We also describe the outcomes of those with persistently abnormal UAs, defined as hematuria and proteinuria or nephrotic-range proteinuria on ≥ 2 consecutive tests. Finally, we compare mortality in EB youth with versus without acute kidney injury (AKI), defined per Kidney Disease Improving Global Outcomes. Results: The overall prevalence of microscopic hematuria was 22.7%, with no significant difference between sex (p = 0.10). Age-based microscopic hematuria followed a bimodal distribution, with increased prevalence among younger (0-3 years) and older (>12 years) children (p=0.003) [Fig. 1]. The overall prevalence of proteinuria was 16.9%, with no significant differences between sex (p = 0.35) or age (p = 0.73) [Fig. 1]. 10 patients (5.9%) had persistently abnormal UAs and were diagnosed with: C3 glomerulopathy (4), urethral stricture (2), infection (2), IgA nephropathy (1), and acute tubular necrosis (1). AKI occurred in 19 patients (11.2%) and was significantly associated with mortality (47.4% in the AKI cohort versus 20.0% in the non-AKI cohort, p = 0.01). Identified causes of death in AKI patients were multiorgan failure including renal failure (3), renal failure alone (1), respiratory failure (1) and severe malnutrition (1). Conclusions: Many youth with EB have hematuria and/or proteinuria, suggesting glomerulonephritis and/or urologic abnormalities may be underdiagnosed in this population. AKI is significantly associated with mortality in EB youth, with renal failure as a potential common cause of death.

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