Categorizing diffuse parenchymal lung disease in children

Abstract

BackgroundAim of this study was to verify a systematic and practical categorization system that allows dynamic classification of pediatric DPLD irrespective of completeness of patient data.MethodsThe study was based on 2322 children submitted to the kids-lung-register between 1997 and 2012. Of these children 791 were assigned to 12 DPLD categories, more than 2/3 belonged to categories manifesting primarily in infancy. The work-flow of the pediatric DPLD categorization system included (i) the generation of a final working diagnosis, decision on the presence or absence of (ii) DPLD and (iii) a systemic or lung only condition, and (iv) the allocation to a category and subcategory. The validity and inter-observer dependency of this workflow was re-tested using a systematic sample of 100 cases.ResultsTwo blinded raters allocated more than 80 % of the re-categorized cases identically. Non-identical allocation was due to lack of appreciation of all available details, insufficient knowledge of the classification rules by the raters, incomplete patient data, and shortcomings of the classification system itself.ConclusionsThis study provides a suitable workflow and hand-on rules for the categorization of pediatric DPLD. Potential pitfalls were identified and a foundation was laid for the development of consensus-based, international categorization guidelines.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0339-1) contains supplementary material, which is available to authorized users.

Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3

“…Such heterogeneity is not unusual, even in the presence of the same disease causing variants (2,4,21), and likely represents the morphologic response of lung parenchyma to variable injuries in different individuals.…”

“…Between 2003 and 2012, 377 infants and children were diagnosed in the program for rare lung diseases of the Kids-Lung Register as suffering from ILD related to the alveolar surfactant region on a clinical, radiological and sometimes histological basis (21). Of these patients, 228 were sequenced for variants in the ABCA3 gene.…”

Chronic interstitial lung disease in children

“…Based on the pathological classification system first introduced for children aged <2 years and based on lung biopsies by DEUTSCH et al [19], a clinicopathological and genetic classification system was established and validated [1,2]. This system has the advantage of accommodating cases not diagnosed by biopsy, those with inconclusive diagnosis or some lacking information.…”

“…The disorders in the "A" categories A1-A4 encompass disorders occurring predominantly in infancy, whereas the disorders in the "B" categories B1-B5 may manifest at all ages. Diseases were categorised according to [1,2]. DPLD: diffuse parenchymal lung disease (used interchangeably with interstitial lung disease).…”

“…chILD research performance lags behind adult ILD: time to change chILD/DPLD in children [1] represents an underdeveloped area of pulmonary research, illustrated by comparing the numbers of publications on ILD in adults and those in chILD (figure 1). Approximately 100 times more publications are referenced for adult ILD.…”