IgA nephropathy in adults with epidermolysis bullosa.
Abstract
Epidermolysis bullosa (EB) is a devastating genetic condition caused by mutations in genes that give rise to aberrant proteins. There are 16 different such proteins implicated in EB that are important in maintaining the integrity of the dermo-epidermal junction. It is classified into 4 major subtypes: 1) EB Simplex (EBS) 2) Junctional EB (JEB) 3) dystrophic EB (DEB) and 4) Kindler EB (KEB) . Renal disease is a recognized complication of EB and the aetiology is complex. We describe our experience of managing 5 patients with EB and IgA nephropathy. We recommend that patients with RDEB and JEB routinely have the following monitored: renal function, urinary ACR, urine analysis, serum albumin levels and immunoglobulins; specifically serum IgA. Management of IgA nephropathy in the context of EB should be tailored to the individual and be carried out within a specialist MDT. Our case series provides important insights into the treatment of IgA nephropathy in patients with EB and will help inform treatment in this rare genetic disease. Case series and reports like ours, are key in gaining real life data to quantify the actual risk of morbidity and mortality from each of the treatment modalities discussed.
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Date
2023-05-16
Type
Article
Subject
Dermatology, Oncology. Pathology., Elderly care.
Citation
Hunjan MK, Bardhan A, Harper N, Balacco DL, Langman G, Suresh V, Heagerty A. IgA nephropathy in adults with epidermolysis bullosa. Clin Exp Dermatol. 2023 May 16:llad091. doi: 10.1093/ced/llad091. Epub ahead of print.
Journal / Source Title
Clinical and Experimental Dermatology
DOI
10.1093/ced/llad091
PMID
37192348
Publisher
Oxford University Press
Publisher’s URL
http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1365-2230
https://academic.oup.com/ced
https://academic.oup.com/ced