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Knoflach, Katrin; Rapp, Christina Katharina; Schwerk, Nicolaus; Carlens, Julia; Wetzke, Martin; Emiralioğlu, Nagehan; Kiper, Nural; Ring, Astrid Madsen; Buchvald, Frederik; Manali, Effrosyni; Papiris, Spyros; Reu‐Hofer, Simone; Kappler, Matthias; Schieber, Alexandra; Seidl, Elias; Gothe, Florian; Robinson, Peter N.; Griese, Matthias
Pediatric pulmonology, April 2023, Volume: 58, Issue: 4Journal Article
Objective Diffuse alveolar hemorrhage (DAH) in children is a rare condition resulting from different underlying diseases. This study aimed at describing characteristics and diagnostic measures in children with ILD (children's interstitial lung disease, chILD) and DAH to improve the diagnostic approach by increasing clinician's awareness of diagnostic shortcomings. Patients and Methods A retrospective data analysis of patients with ILD and DAH treated in our own or collaborating centers between 01/07/1997 and 31/12/2020 was performed. Data on clinical courses and diagnostic measures were systematically retrieved as case‐vignettes and investigated. To assess suitability of diagnostic software‐algorithms, the Human Phenotype Ontology (HPO) was revised and expanded to optimize conditions of its associated tool the “Phenomizer.” Results For 97 (74%) of 131 patients, etiology of pulmonary hemorrhage was clarified. For 34 patients (26%), no underlying condition was found (termed as idiopathic pulmonary hemorrhage, IPH). Based on laboratory findings or clinical phenotype/comorbidities, 20 of these patients were assigned to descriptive clusters: IPH associated with autoimmune features (9), eosinophilia (5), renal disease (3) or multiorgan involvement (3). For 14 patients, no further differentiation was possible. Conclusion Complete and sometimes repeated diagnostics are essential for establishing the correct diagnosis in children with DAH. We suggest assignment of patients with IPH to descriptive clusters, which may also guide further research. Digital tools such as the Phenomizer/HPO are promising, but need to be extended to increase diagnostic accuracy.
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