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Báo cáo y học: "Interstitial lung disease in children – genetic background and associated phenotypes"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài:"Interstitial lung disease in children – genetic background and associated phenotypes. | Respiratory Research BioMed Central Review Open Access Interstitial lung disease in children - genetic background and associated phenotypes Dominik Hartl and Matthias Griese Address Pediatric Pneumology Childrens hospital of the Ludwig-Maximilians-University Munich Germany Email Dominik Hartl - dominic.hartl@med.uni-muenchen.de Matthias Griese - matthias.griese@med.uni-muenchen.de Corresponding author Published 08 April 2005 Received 09 January 2005 Respiratory Research 2005 6 32 doi 10.1186 1465-9921 -6-32 Accepted 08 April 2005 This article is available from http respiratory-research.cOm content 6 1 32 2005 Hartl and Griese licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 2.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Interstitial lung disease in children represents a group of rare chronic respiratory disorders. There is growing evidence that mutations in the surfactant protein C gene play a role in the pathogenesis of certain forms of pediatric interstitial lung disease. Recently mutations in the ABCA3 transporter were found as an underlying cause of fatal respiratory failure in neonates without surfactant protein B deficiency. Especially in familiar cases or in children of consanguineous parents genetic diagnosis provides an useful tool to identify the underlying etiology of interstitial lung disease. The aim of this review is to summarize and to describe in detail the clinical features of hereditary interstitial lung disease in children. The knowledge of gene variants and associated phenotypes is crucial to identify relevant patients in clinical practice. Review Interstitial lung disease in children Interstitial lung disease ILD in children represents a heterogeneous group of rare respiratory disorders characterised by restrictive lung disease and diffuse .