J.R. Davey , B. Fergie , S.J. Hwang , L.M. Rhodes , , B.S. Daniel , S.J. Ho , , G. Mangos , D.F. Murrell ,
Background: Renal failure has been reported as the second leading cause of death in Recessive Dystrophic Epidermolysis Bullosa (RDEB) and is also known to occur in Junctional Epidermolysis Bullosa (JEB). Common types of renal disease in EB include IgA mesangial cell nephropathy, poststreptococcal nephritis, and renal amyloidosis. Despite this, there are currently no studies identifying the prevalence of renal impairment in EB in Australia.
Methods: Using a dataset of 366 Australian EB patient charts, 142 available haematology, blood urea/creatinine and urine tests were analysed for evidence renal impairment. Patient data was used to determine the prevalence of renal impairment in the sample, and estimate the prevalence in the Australian EB population.
Results: 9.15% of patients had renal impairment with seven of 13 being RDEB or JEB sufferers. There were also ﬁ ve EB Simplex patients and one Dominant Dystrophic EB patient. Thus, prevalence in the overall Australian EB population could be estimated at 3.55%. Of the 13 patients with renal impairment, four were deceased and at least one of those deaths was due to renal failure. Of the remaining living patients, two are undergoing peritoneal dialysis, with one being considered for a live donor transplant.
Conclusions: Renal impairment can develop in severe EB
subtypes at an early age. Therefore routine screening is important. Timely detection and treatment may not only
increase life expectancy, but also improve wellbeing and
quality of life in EB patients.