Interstitial lung disease in children - genetic background and associated phenotypes

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

Human matrix metalloproteinases: An ubiquitarian class of enzymes involved in several pathological processes

Human matrix metalloproteinases (MMPs) belong to the M10 family of the MA clan of endopeptidases. They are ubiquitarian enzymes, structurally characterized by an active site where a Zn(2+) atom, coordinated by three histidines, plays the catalytic role, assisted by a glutamic acid as a general base. Various MMPs display different domain composition, which is very important for macromolecular substrates recognition. Substrate specificity is very different among MMPs, being often associated to their cellular compartmentalization and/or cellular type where they are expressed. An extensive review of the different MMPs structural and functional features is integrated with their pathological role in several types of diseases, spanning from cancer to cardiovascular diseases and to neurodegeneration. It emerges a very complex and crucial role played by these enzymes in many physiological and pathological processes

Pneumonia intersticial linfocítica: correlação da tomografia computadorizada de alta resolução com a anatomopatologia

A proposta do trabalho é apresentar os achados radiológicos observados na mtomografia computadorizada de alta resolução do tórax de dois pacientes com pneumonia intersticial linfocítica e correlacioná-los com os aspectos anatomopatológicos, obtidos a partir de biópsias a céu aberto. Um dos pacientes mostrou, na tomografia, basicamente opacidades em vidro fosco difusas, e o outro tinha infiltração ao longo das bainhas conjuntivas peribroncovasculares. Na anatomopatologia o padrão predominante foi o de infiltração intersticial, especialmente ao longo dos septos alveolares, por linfócitos policlonais. O estudo mostrou estreita correlação entre os achados anatomopatológicos e aqueles observados na tomografia computadorizada de alta resolução do tórax.The purpose of this study is to report the main high-resolution computed tomography findings of two patients with lymphocytic interstitial pneumonia. High-resolution computed tomography findings were correlated with pathology findings of material obtained from open biopsies. One patient had diffuse ground glass opacities seen on high-resolution computed tomography whereas the other patient had peribroncovascular thickening. Anatomopathology studies showed that the main pattern was polyclonal lymphocyte interstitial infiltration, particularly along alveolar septa. The current study demonstrated a close correlation between high-resolution computed tomography and anatomopathology findings