{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T03:51:39Z","timestamp":1788580299074,"version":"build-2803163510"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T00:00:00Z","timestamp":1752537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Renal manifestations in patients with recessive dystrophic epidermolysis bullosa (RDEB) due to collagen VII deficiency have been described only in case series and could thus be underestimated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe the prevalence and types of kidney disease in a large cohort of patients with RDEB.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a retrospective study in two Parisian reference centres for RDEB and included patients with at least two concurrent blood and urine analyses. Kidney disease was defined as either glomerular with elevated albumin or tubulointerstitial with elevated \u03b22-microglobulin.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We included 120 patients with a confirmed molecular diagnosis of RDEB characterized by collagen VII deficiency between 2005 and 2021, of whom 36 (30%) exhibited kidney disease. Of these, 15 (12.5%) displayed glomerular disease, most commonly due to IgA nephropathy, and 21 (17.5%) presented with a tubulointerstitial presentation, often associated with complex hydroelectrolytic disorders. The immunohistochemistry study with anticollagen VII antibody was positive on glomerular and tubular basement membranes in controls and negative in patients with complete collagen VII deficiency. In multivariate analysis, kidney disease was significantly associated with disease severity (P = 0.002). Overall survival was reduced in patients with RDEB with kidney complications. Based on these findings, we propose recommendations for the detection and monitoring of kidney disease in this patient population, with early referral to a nephrologist specifically on the identification of renal abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Kidney disease is common, correlates with disease severity, and impacts the prognosis of patients with RDEB. Systematic screening is recommended in this population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bjd\/ljaf271","type":"journal-article","created":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T14:17:22Z","timestamp":1752502642000},"page":"1204-1213","source":"Crossref","is-referenced-by-count":1,"title":["Prevalence of kidney complications in a large cohort of patients with recessive dystrophic epidermolysis bullosa"],"prefix":"10.1093","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8045-1658","authenticated-orcid":false,"given":"Idris","family":"Boudhabhay","sequence":"first","affiliation":[{"name":"Department of Nephrology and Transplantation, Necker Enfants-Malades University Hospital, Assistance Publique des H\u00f4pitaux de Paris , Paris ,","place":["France"]},{"name":"Team Inflammation Complement and Cancer, Centre de Recherche des Cordeliers , Paris ,","place":["France"]},{"name":"Universit\u00e9 Paris Cit\u00e9 , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalia","family":"Bellon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Avramescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Bataille","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Duval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Rabant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5381-3361","authenticated-orcid":false,"given":"Sylvain","family":"Bodard","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Ould-Rabah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Leclerc-Mercier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Boyer","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Sakhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Canaud","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangeline","family":"Pillebout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Bourrat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 , Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,7,15]]},"reference":[{"key":"2025111813170740000_ljaf271-B1","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/s41572-020-0210-0","article-title":"Epidermolysis bullosa","volume":"6","author":"Bardhan","year":"2020","journal-title":"Nat Rev Dis Primers"},{"key":"2025111813170740000_ljaf271-B2","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.jaad.2009.03.052","article-title":"Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I","volume":"61","author":"Fine","year":"2009","journal-title":"Epithelial associated tissues. J Am Acad Dermatol"},{"key":"2025111813170740000_ljaf271-B3","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.jaad.2009.03.053","article-title":"Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II","volume":"61","author":"Fine","year":"2009","journal-title":"Other organs. J Am Acad Dermatol"},{"key":"2025111813170740000_ljaf271-B4","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1111\/j.1365-2133.2008.08507.x","article-title":"Gastrointestinal complications of epidermolysis bullosa in children","volume":"158","author":"Freeman","year":"2008","journal-title":"Br J Dermatol"},{"key":"2025111813170740000_ljaf271-B5","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.det.2010.01.014","article-title":"Genitourinary tract involvement in epidermolysis bullosa","volume":"28","author":"Almaani","year":"2010","journal-title":"Dermatol Clin"},{"key":"2025111813170740000_ljaf271-B6","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/S0272-6386(88)80059-3","article-title":"The spectrum of renal involvement in epidermolysis bullosa dystrophica hereditaria: report of two cases","volume":"11","author":"Mann","year":"1988","journal-title":"Am J Kidney Dis"},{"key":"2025111813170740000_ljaf271-B7","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1046\/j.1365-4362.2000.00904.x","article-title":"Recessive dystrophic epidermolysis bullosa complicated with nephrotic syndrome due to secondary amyloidosis","volume":"39","author":"G\u00fcnd\u00fcz","year":"2000","journal-title":"Int J Dermatol"},{"key":"2025111813170740000_ljaf271-B8","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1046\/j.1365-2230.2003.01185.x","article-title":"Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis","volume":"28","author":"Csik\u00f3s","year":"2003","journal-title":"Clin Exp Dermatol"},{"key":"2025111813170740000_ljaf271-B9","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.4103\/1319-2442.275492","article-title":"Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: a case report and brief review of literature","volume":"30","author":"P\u0131narba\u015f\u0131","year":"2019","journal-title":"Saudi J Kidney Dis Transpl"},{"key":"2025111813170740000_ljaf271-B10","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1159\/000018384","article-title":"Renal amyloidosis in recessive dystrophic epidermolysis bullosa","volume":"200","author":"Kaneko","year":"2000","journal-title":"Dermatology"},{"key":"2025111813170740000_ljaf271-B11","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s00467-007-0577-0","article-title":"End-stage renal disease secondary to IgA nephropathy in recessive dystrophic epidermolysis bullosa: a case report","volume":"23","author":"Tammaro","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"2025111813170740000_ljaf271-B12","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1080\/0886022X.2019.1614056","article-title":"Diffuse membranoproliferative glomerulonephritis with focal sclerosis and renal amyloidosis in an adult male with autosomal dominant dystrophic epidermolysis bullosa: a case report","volume":"41","author":"Soliman","year":"2019","journal-title":"Ren Fail"},{"key":"2025111813170740000_ljaf271-B13","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/S0151-9638(04)93806-9","article-title":"[Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens) with IgA nephropathy: 4 cases]","volume":"131","author":"Farhi","year":"2004","journal-title":"Ann Dermatol Venereol"},{"key":"2025111813170740000_ljaf271-B14","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1620\/tjem.214.297","article-title":"IgA nephropathy in a patient with dominant dystrophic epidermolysis bullosa","volume":"214","author":"Kawasaki","year":"2008","journal-title":"Tohoku J Exp Med"},{"key":"2025111813170740000_ljaf271-B15","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1111\/ced.15228","article-title":"Successful use of rituximab, an anti-CD20 monoclonal antibody, to treat IgA nephropathy in a patient with recessive dystrophic epidermolysis bullosa","volume":"47","author":"Hunjan","year":"2022","journal-title":"Clin Exp Dermatol"},{"key":"2025111813170740000_ljaf271-B16","first-page":"68","article-title":"Recessive dystrophic epidermolysis bullosa and IgA glomerulonephritis","volume":"49","author":"Boulanger","year":"1998","journal-title":"Clin Nephrol"},{"key":"2025111813170740000_ljaf271-B17","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/j.1365-2133.2006.07516.x","article-title":"Nephro-urological complications of epidermolysis bullosa in paediatric patients","volume":"156","author":"Chan","year":"2007","journal-title":"Br J Dermatol"},{"key":"2025111813170740000_ljaf271-B18","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1007\/s12098-012-0907-5","article-title":"Renal involvement in epidermolysis bullosa simplex: an unusual presentation","volume":"81","author":"Harikrishnan","year":"2014","journal-title":"Indian J Pediatr"},{"key":"2025111813170740000_ljaf271-B19","doi-asserted-by":"crossref","first-page":"e2021051","DOI":"10.5826\/dpc.1103a51","article-title":"Kidney and urinary tract involvement in epidermolysis bullosa: is routine follow-up necessary?","volume":"11","author":"Cicek","year":"2021","journal-title":"Dermatol Pract Concept"},{"key":"2025111813170740000_ljaf271-B20","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.18921","article-title":"Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility","volume":"183","author":"Has","year":"2020","journal-title":"Br J Dermatol"},{"key":"2025111813170740000_ljaf271-B21","doi-asserted-by":"crossref","first-page":"S117","DOI":"10.1016\/j.kint.2023.10.018","article-title":"Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2024 Clinical Practice Guideline for the evaluation and management of chronic kidney disease","volume":"105","author":"Stevens","year":"2024","journal-title":"Kidney Int"},{"key":"2025111813170740000_ljaf271-B22","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1161\/CIRCHEARTFAILURE.112.000089","article-title":"The impact of renal tubular damage, as assessed by urinary \u03b22-microglobulin-creatinine ratio, on cardiac prognosis in patients with chronic heart failure","volume":"6","author":"Otaki","year":"2013","journal-title":"Circ Heart Fail"},{"key":"2025111813170740000_ljaf271-B23","doi-asserted-by":"crossref","first-page":"183","DOI":"10.7326\/M20-4366","article-title":"Development and validation of a modified full age spectrum creatinine-based equation to estimate glomerular filtration rate: a cross-sectional analysis of pooled data","volume":"174","author":"Pottel","year":"2021","journal-title":"Ann Intern Med"},{"key":"2025111813170740000_ljaf271-B24","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1056\/NEJMoa2203769","article-title":"Cystatin C-based equation to estimate GFR without the inclusion of race and sex","volume":"388","author":"Pottel","year":"2023","journal-title":"N Engl J Med"},{"key":"2025111813170740000_ljaf271-B25","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1001\/jamadermatol.2022.2885","article-title":"Kidney-urinary tract involvement in intermediate junctional epidermolysis bullosa","volume":"158","author":"Trefzer","year":"2022","journal-title":"JAMA Dermatol"},{"key":"2025111813170740000_ljaf271-B26","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abh2169","article-title":"A single-cell type transcriptomics map of human tissues","volume":"7","author":"Karlsson","year":"2021","journal-title":"Sci Adv"},{"key":"2025111813170740000_ljaf271-B27","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1093\/ndt\/gfaa378","article-title":"Immunoglobulin A nephropathy in association with inflammatory bowel diseases: results from a national study and systematic literature review","volume":"37","author":"Joher","year":"2022","journal-title":"Nephrol Dial Transplant"},{"key":"2025111813170740000_ljaf271-B28","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1016\/j.ekir.2020.03.012","article-title":"Spondyloarthritis-associated IgA nephropathy","volume":"5","author":"Champtiaux","year":"2020","journal-title":"Kidney Int Rep"},{"key":"2025111813170740000_ljaf271-B29","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.15252\/emmm.201505061","article-title":"Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms","volume":"7","author":"Nystr\u00f6m","year":"2015","journal-title":"EMBO Mol Med"},{"key":"2025111813170740000_ljaf271-B30","first-page":"100662","article-title":"How unmeasured muscle mass affects estimated GFR and diagnostic inaccuracy","volume":"29\u201330","author":"Nankivell","year":"2020","journal-title":"EClinMed"},{"key":"2025111813170740000_ljaf271-B31","doi-asserted-by":"crossref","first-page":"1437","DOI":"10.1111\/bjd.18475","article-title":"Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study","volume":"182","author":"Reimer","year":"2020","journal-title":"Br J Dermatol"},{"key":"2025111813170740000_ljaf271-B32","doi-asserted-by":"crossref","first-page":"1394678","DOI":"10.1155\/2019\/1394678","article-title":"\u03b22-microglobulin and neutrophil gelatinase-associated lipocalin, potential novel urine biomarkers in periodontitis: a cross-sectional study in Japanese","volume":"2019","author":"Nakajima","year":"2019","journal-title":"Int J Dent"},{"key":"2025111813170740000_ljaf271-B33","doi-asserted-by":"crossref","first-page":"492838","DOI":"10.1155\/2014\/492838","article-title":"Urinary \u03b22-microglobulin is a good indicator of proximal tubule injury: a correlative study with renal biopsies","volume":"2014","author":"Zeng","year":"2014","journal-title":"J Biomarkers"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bjd\/advance-article-pdf\/doi\/10.1093\/bjd\/ljaf271\/63772007\/ljaf271.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/193\/6\/1204\/63772007\/ljaf271.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/article-pdf\/193\/6\/1204\/63772007\/ljaf271.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T18:17:18Z","timestamp":1763489838000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/article\/193\/6\/1204\/8202974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,15]]},"references-count":33,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,7,15]]},"published-print":{"date-parts":[[2025,11,18]]}},"URL":"https:\/\/doi.org\/10.1093\/bjd\/ljaf271","relation":{},"ISSN":["0007-0963","1365-2133"],"issn-type":[{"value":"0007-0963","type":"print"},{"value":"1365-2133","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,12]]},"published":{"date-parts":[[2025,7,15]]}}}