Fremerey C, Wiebe B, Feyen O, Lenski C, Pohlmann U, Ehlen M, Schofer O, Meindl A, Niehues T, Bartmann P
Department of Neonatology and Pediatric Intensive Care, Asklepios Klinik St. Augustin, Germany.
Klin Padiatr. 2009 Sep;221(5):302-4. doi: 10.1055/s-0029-1192041. Epub 2009 Aug 25.
We report on a 4 month old male infant with respiratory syncytial virus (RSV) infection leading to acute respiratory distress syndrome (ARDS). A diagnostic algorithm including extended infectiological and immunological work-up revealed absence of CD40-ligand. ARDS was treated successfully with a complex respiratory therapy plus intravenous immunoglobulin substitution. Molecular analysis detected mutations in the CD40L gene (Hyper-IgM syndrome Type 1). The case underlines the importance of an extended diagnostic work-up in an uncommonly severe course of respiratory infection in early infancy.
我们报告了一名4个月大的男婴，其因呼吸道合胞病毒（RSV）感染导致急性呼吸窘迫综合征（ARDS）。一项包括广泛感染学和免疫学检查的诊断算法显示其缺乏CD40配体。采用综合呼吸治疗加静脉注射免疫球蛋白替代疗法成功治疗了ARDS。分子分析检测到CD40L基因存在突变（1型高免疫球蛋白M综合征）。该病例强调了在婴儿早期罕见的严重呼吸道感染病程中进行广泛诊断检查的重要性。
