BACKGROUND: Diffuse parenchymal lung diseases (DPLD) in children represent a rare and heterogeneous group of chronic pulmonary disorders. Despite substantial advances in enetics and pathomechanisms, these often lethal diseases are still under-diagnosed. This is due to the fact that (i) the incidence is low, and (ii) clinical presentation, (iii) disease classification and (iv) specific treatment options are largely unknown. METHODS: Here we systematically assessed the incidence, the presentation, the diagnostic yield and treatments of pediatric DPLD in Germany, using the Surveillance Unit for Rare Paediatric Disorders (ESPED). RESULTS: The incidence of DPLD was 1.32 new cases per 1 million of children per year. The majority of these children were diagnosed within the first year of life. Overall survival was 87%. Using centralized data entry and stratification tools, the patients were categorized into an advanced classification system based on diagnostic algorithms, including clinical presentations, genetics and/or histology. Combining molecular and clinical information, this survey provides an etiological overview and specific diagnostic recommendations for children with DPLD. CONCLUSIONS: Standardized surveys and systematic classifications are valuable tools for the clinical handling of children with DPLD and aim to improve the disease understanding and the prognosis of these rare detrimental lung diseases.
BACKGROUND: Diffuse parenchymal lung diseases (DPLD) in children represent a rare and heterogeneous group of chronic pulmonary disorders. Despite substantial advances in enetics and pathomechanisms, these often lethal diseases are still under-diagnosed. This is due to the fact that (i) the incidence is low, and (ii) clinical presentation, (iii) disease classification and (iv) specific treatment options are largely unknown. METHODS: Here we systematically assessed the incidence, the presentation, the diagnostic yield and treatments of pediatric DPLD in Germany, using the Surveillance Unit for Rare Paediatric Disorders (ESPED). RESULTS: The incidence of DPLD was 1.32 new cases per 1 million of children per year. The majority of these children were diagnosed within the first year of life. Overall survival was 87%. Using centralized data entry and stratification tools, the patients were categorized into an advanced classification system based on diagnostic algorithms, including clinical presentations, genetics and/or histology. Combining molecular and clinical information, this survey provides an etiological overview and specific diagnostic recommendations for children with DPLD. CONCLUSIONS: Standardized surveys and systematic classifications are valuable tools for the clinical handling of children with DPLD and aim to improve the disease understanding and the prognosis of these rare detrimental lung diseases.
Authors: Gail H Deutsch; Lisa R Young; Robin R Deterding; Leland L Fan; Sharon D Dell; Judy A Bean; Alan S Brody; Lawrence M Nogee; Bruce C Trapnell; Claire Langston; Eric A Albright; Frederic B Askin; Peter Baker; Pauline M Chou; Carlyne M Cool; Susan C Coventry; Ernest Cutz; Mary M Davis; Megan K Dishop; Csaba Galambos; Kathleen Patterson; William D Travis; Susan E Wert; Frances V White Journal: Am J Respir Crit Care Med Date: 2007-09-20 Impact factor: 21.405
Authors: Jennifer J Soares; Gail H Deutsch; Paul E Moore; Mohammad F Fazili; Eric D Austin; Rebekah F Brown; Andrew G Sokolow; Melissa A Hilmes; Lisa R Young Journal: Pediatrics Date: 2013-09-30 Impact factor: 7.124
Authors: Leland L Fan; Megan K Dishop; Csaba Galambos; Frederic B Askin; Frances V White; Claire Langston; Deborah R Liptzin; Miranda E Kroehl; Gail H Deutsch; Lisa R Young; Geoffrey Kurland; James Hagood; Sharon Dell; Bruce C Trapnell; Robin R Deterding Journal: Ann Am Thorac Soc Date: 2015-10
Authors: Robin R Deterding; Emily M DeBoer; Michal J Cidon; Terry E Robinson; David Warburton; Gail H Deutsch; Lisa R Young Journal: Am J Respir Crit Care Med Date: 2019-11-15 Impact factor: 21.405
Authors: Monique R Radman; Patricia Goldhoff; Kirk D Jones; Anthony Azakie; Sanjeev Datar; Ian Adatia; Peter E Oishi; Jeffrey R Fineman Journal: Pediatr Cardiol Date: 2012-05-22 Impact factor: 1.655