Abstract
Determine high-resolution tomography (HRCT) scan characteristics in children with SFTPC mutation and correlate them to histological findings. This retrospective multicenter study included 15 children (7 females and 8 males) with SFTPC mutations. HRCT scans have been performed in all the children and lung biopsies in 8 children. From all signs assessed on initial HRCT scans, ground-glass opacities (n =14, 93%) and lung cysts (n = 6, 40%) were predominant. Interlobular septal thickening (n = 1, 7%), air space consolidation (n = 1, 7%), paraseptal emphysema (n = 2, 13%), and pulmonary nodules (n = 1, 7%) were also found. Histological analysis revealed accumulation of macrophages in the alveolar lumen, type II pneumocyte hyperplasia, and alveolar septal thickening. Dilatation of the respiratory bronchiole and alveolar duct associated with muscular hyperplasia were also described. Interestingly, lung cysts on HRCT scans were associated with dilatation of terminal bronchioli and alveolar duct in lung biopsies. In children with SFTPC mutations, HRCT scan finding was highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing.
References
Dec 8, 1998·AJR. American Journal of Roentgenology·T S KimC H Rhee
Sep 2, 1999·AJR. American Journal of Roentgenology·D A LynchL L Fan
Jan 13, 2000·The American Journal of Surgical Pathology·A L Katzenstein, J L Myers
Feb 22, 2001·Annual Review of Physiology·T E Weaver, J J Conkright
Jul 21, 2001·American Journal of Respiratory and Critical Care Medicine·G W HunninghakeM Millard
Jul 31, 2001·Pediatric Research·F S ColeL M Nogee
Mar 15, 2002·Chest·Lawrence M NogeeJeffrey A Whitsett
May 7, 2002·American Journal of Respiratory and Critical Care Medicine·Alan Q ThomasJames E Loyd
May 28, 2002·The European Respiratory Journal·M Demedts, U Costabel
Feb 20, 2003·AJR. American Journal of Roentgenology·Mitsuhiro KoyamaNestor L Müller
Dec 6, 2003·American Journal of Respiratory Cell and Molecular Biology·Aaron HamvasPhilip L Ballard
Mar 25, 2004·American Journal of Medical Genetics. Part a·Mohammed TredanoMichel Bahuau
Mar 27, 2004·The New England Journal of Medicine·Sergey ShuleninMichael Dean
May 11, 2004·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Rajni ChibbarEdmond G Lemire
Aug 6, 2004·The European Respiratory Journal·F BraschM F Beers
Nov 2, 2004·Thorax·W E LawsonR M du Bois
Mar 2, 2005·Radiologic Clinics of North America·Alan S Brody
Mar 10, 2005·The Journal of Pediatrics·H Scott CameronLawrence M Nogee
Mar 22, 2005·American Journal of Respiratory Cell and Molecular Biology·Surafel MulugetaMichael F Beers
Jun 20, 2006·Microbes and Infection·Surafel Mulugeta, Michael F Beers
Dec 5, 2006·Seminars in Perinatology·Aaron Hamvas
Sep 22, 2007·American Journal of Respiratory and Critical Care Medicine·Gail H DeutschUNKNOWN ChILD Research Co-operative
Nov 21, 2007·Thorax·M L DoanL L Fan
Nov 30, 2007·The New England Journal of Medicine·David J Brenner, Eric J Hall
Feb 14, 2008·Radiology·C Isabela S SilvaAthol U Wells
Jan 17, 2009·Pediatric Pulmonology·Rola Abou TaamJacques de Blic
May 16, 2009·Journal of Medical Genetics·L GuillotD Feldmann
Apr 21, 2010·Archives of Disease in Childhood·Guillaume ThouveninRalph Epaud
Citations
Jul 12, 2012·Current Opinion in Pulmonary Medicine·Raphael BorieBruno Crestani
Apr 19, 2011·American Journal of Respiratory and Critical Care Medicine·Vincent Cottin, Jean-François Cordier
Mar 31, 2012·American Journal of Respiratory Cell and Molecular Biology·Gareth A StewartTimothy E Weaver
Aug 3, 2013·American Journal of Respiratory and Critical Care Medicine·Geoffrey KurlandUNKNOWN American Thoracic Society Committee on Childhood Interstitial Lung Disease (chILD) and the chILD Research Network
Jan 13, 2012·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·R EpaudF Flamein
Mar 7, 2014·Pediatric Radiology·Laureline BertelootJacques de Blic
Jul 17, 2013·Revue de pneumologie clinique·C DelestrainR Epaud
Sep 6, 2011·Radiologic Clinics of North America·R Paul Guillerman, Alan S Brody
Oct 25, 2011·Paediatric Respiratory Reviews·W Adam Gower, Lawrence M Nogee
Sep 29, 2015·Annals of the American Thoracic Society·Robin R Deterding
Jan 19, 2015·Revue des maladies respiratoires·R BorieB Crestani
Dec 7, 2013·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Vivianne Calheiros Chaves GomesEdson Marchiori
Mar 28, 2018·Orphanet Journal of Rare Diseases·Meike HengstMatthias Griese
Dec 19, 2017·Case Reports in Pulmonology·Norlalak JirametheeAndras Khoor
Jul 13, 2018·European Respiratory Review : an Official Journal of the European Respiratory Society·Dymph KlayColine H M van Moorsel
Feb 7, 2015·The European Respiratory Journal·Carolin KrönerMatthias Griese
Apr 28, 2017·European Respiratory Review : an Official Journal of the European Respiratory Society·Raphael BorieBruno Crestani
May 3, 2019·Cancer Biomarkers : Section a of Disease Markers·Shihang KuangYouwei Le
Jul 16, 2016·Archives of Disease in Childhood·Atul Gupta, Sean Lee Zheng
Feb 26, 2020·JRSM Open·Mohammed A AlzaidKhalid Mobaireek
Sep 27, 2019·European Respiratory Review : an Official Journal of the European Respiratory Society·Raphael BorieBruno Crestani
Feb 1, 2013·Expert Review of Respiratory Medicine·Spyros A PapirisDemosthenes Bouros
Mar 18, 2015·The Journal of Biological Chemistry·Donna Maretta AriestantiNobuhiro Nakamura
Aug 14, 2018·Carcinogenesis·Chaofeng TuWei Xiong
May 21, 2020·Frontiers in Physiology·Kirsten SehlmeyerElena Lopez-Rodriguez
Oct 12, 2017·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Thomas R SempleCatherine M Owens
May 22, 2020·La Presse médicale·Raphael BorieBruno Crestani
Mar 6, 2021·Pediatric Pulmonology·Emily M DeBoerJason P Weinman