{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["158(9)"],"submitter":["Trefzer L"],"pubmed_abstract":["<h4>Importance</h4>Kidney-urinary tract (KUT) manifestations cause substantial morbidity in patients with junctional epidermolysis bullosa (JEB), but the spectrum of disease severity and the clinical course have been poorly characterized.<h4>Objective</h4>To examine in a large cohort of patients with intermediate JEB the KUT manifestations, diagnostic and therapeutic procedures, genotype-phenotype correlations, and outcomes as a basis for recommendations, prognosis, and management.<h4>Design, setting, and participants</h4>In this retrospective, longitudinal case series study, 99 patients with a diagnosis of JEB based on clinical and genetic findings who were treated in a single dermatology department in Freiburg, Germany, were assessed during an 18-year period (January 1, 2003, to December"],"journal":["JAMA dermatology"],"pagination":["1057-1062"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9350844"],"repository":["biostudies-literature"],"pubmed_title":["Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa."],"pmcid":["PMC9350844"],"pubmed_authors":["Trefzer L","Pohl M","Nystrom A","Miernik A","Has C","Schwieger-Briel A","Conradt G"],"additional_accession":[]},"is_claimable":false,"name":"Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa.","description":"<h4>Importance</h4>Kidney-urinary tract (KUT) manifestations cause substantial morbidity in patients with junctional epidermolysis bullosa (JEB), but the spectrum of disease severity and the clinical course have been poorly characterized.<h4>Objective</h4>To examine in a large cohort of patients with intermediate JEB the KUT manifestations, diagnostic and therapeutic procedures, genotype-phenotype correlations, and outcomes as a basis for recommendations, prognosis, and management.<h4>Design, setting, and participants</h4>In this retrospective, longitudinal case series study, 99 patients with a diagnosis of JEB based on clinical and genetic findings who were treated in a single dermatology department in Freiburg, Germany, were assessed during an 18-year period (January 1, 2003, to December","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-05-09T14:02:12.958Z","creation":"2025-04-07T04:16:14.644Z"},"accession":"S-EPMC9350844","cross_references":{"pubmed":["35921091"],"doi":["10.1001/jamadermatol.2022.2885"]}}