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Childhood interstitial lung

Paul G Thacker, Sara O Vargas, Martha P Fishman, Alicia M Casey, Edward Y Lee
Childhood interstitial lung disease represents a rare and heterogeneous group of diseases that can result in significant morbidity and mortality, some leading to death during infancy. CT is the imaging test of choice. Although many CT findings are nonspecific and a definitive diagnosis usually cannot be reached by CT alone, the interpreting radiologist is instrumental in defining disease extent and refining the diagnosis. Chest CTs are of key importance in guiding site selection for lung biopsy and for following disease progression and response to treatment...
November 2016: Radiologic Clinics of North America
Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis, Lidia Larizza
BACKGROUND: Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA3 mutations and presented a dramatically severe phenotype leading to death before age 2 years, from multi-organ failure due to interstitial lung disease and congenital nephrotic syndrome. The involvement of skin and cutaneous adnexa was variable with sparse hair and nail dysplasia combined or not to skin lesions ranging from skin fragility to epidermolysis bullosa-like blistering...
October 7, 2016: Orphanet Journal of Rare Diseases
Enas A Hamed, Mostafa M El-Saied, Khaled Saad, Hazem Abu-Zeid Yousef, Amany O Mohamed, Dina Sabry
OBJECTIVE: This study aimed to evaluate fibrosis and elastin destruction in childhood interstitial lung disease (chILD) patients. METHODS: Sixty patients and twenty healthy children were recruited. On admission, evaluation of chILD severity was made using Fan chILD score. Participants provided urine and blood samples. Plasma levels of transforming growth factor (TGF)-β1, connective tissue growth factor (CCN2), soluble factor related apoptosis (sFas) and long non-coding RNAs and urinary levels of desmosine/urinary creatinine (UDes/UCr) were measured...
September 21, 2016: Pathophysiology: the Official Journal of the International Society for Pathophysiology
Silvia Caimmi, Amelia Licari, Davide Caimmi, Anna Rispoli, Eugenio Baraldi, Fiorella Calabrese, Gian Luigi Marseglia
BACKGROUND: Childhood interstitial lung disease (chILD) is a heterogeneous group of rare disorders characterized by abnormal imaging findings, impaired gas exchange; and is associated with substantial morbidity and mortality. Neuroendocrine cell hyperplasia (NEHI) is a unique sub-group, which is more prevalent in infants and children younger than 2 years of age, and typically manifests with chronic tachypnea, retractions, hypoxemia and failure to thrive. NEHI insidiously appears in the first year of life, subtly masquerading as one of the more common lung diseases of childhood...
September 15, 2016: Italian Journal of Pediatrics
Marie-Louise Frémond, Mathieu Paul Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, Darragh Duffy, Didier Bessis, Guilhem Cros, Gillian I Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Christine Bodemer, Monique Fabre, Laureline Berteloot, Muriel Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader-Meunier, Fréderic Rieux-Laucat, Yanick Joseph Crow, Bénédicte Neven
BACKGROUND: Gain-of-function mutations in TMEM173 encoding STING (Stimulator of Interferon Genes) underlie a novel type I interferonopathy. This disease is seemingly minimally responsive to conventional immunosuppressive therapies - and thus associated with high childhood morbidity and mortality. OBJECTIVE: Our aim was to describe the use of ruxolitinib, an oral Janus kinase (JAK) 1/2 inhibitor, in the treatment of vasculopathy associated with TMEM173-activating mutations...
August 20, 2016: Journal of Allergy and Clinical Immunology
Atul Gupta, Sean Lee Zheng
Genetic mutations affecting proteins required for normal surfactant protein function are a rare cause of respiratory disease. The genes identified that cause respiratory disease are surfactant protein B, surfactant protein C, ATP binding cassette number A3 and thyroid transcription factor-1. Surfactant protein dysfunction syndromes are highly variable in their onset and presentation, and are dependent on the genes involved and environmental factors. This heterogeneous group of conditions can be associated with significant morbidity and mortality...
July 14, 2016: Archives of Disease in Childhood
Jennifer A Wambach, Ping Yang, Daniel J Wegner, Hillary B Heins, Lyudmila N Kaliberova, Sergey A Kaliberov, David T Curiel, Frances V White, Aaron Hamvas, Brian P Hackett, F Sessions Cole
RATIONALE: Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe neonatal respiratory distress syndrome (RDS) and childhood interstitial lung disease (chILD). As most ABCA3 mutations are rare or private, determination of mutation pathogenicity is often based on results from in silico prediction tools, identification in unrelated diseased individuals, statistical association studies, or expert opinion. Functional biologic studies of ABCA3 mutations are needed to confirm mutation pathogenicity and inform clinical decision making...
July 2, 2016: American Journal of Respiratory Cell and Molecular Biology
Melissa Kaori Silva Litao, Don Hayes, Saurabh Chiwane, Lawrence M Nogee, Geoffrey Kurland, Lokesh Guglani
Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes. We report a novel mutation in SFTPC [c.435G->A, p.(Gln145)] that was associated with onset of symptoms in early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, and eventual lung transplant at 1 year of age. While the mutation was not predicted to alter the amino acid sequence of the SP-C precursor protein, analysis of SP-C transcripts demonstrated skipping of exon 4...
June 30, 2016: Pediatric Pulmonology
Paolo Spagnolo, Andrew Bush
Childhood interstitial lung disease (chILD) represents a highly heterogeneous group of rare disorders associated with substantial morbidity and mortality. Although our understanding of chILD remains limited, important advances have recently been made, the most important being probably the appreciation that disorders that present in early life are distinct from those occurring in older children and adults, albeit with some overlap. chILD manifests with diffuse pulmonary infiltrates and nonspecific respiratory signs and symptoms, making exclusion of common conditions presenting in a similar fashion an essential preliminary step...
June 2016: Pediatrics
A K Morrison, M Patel, S L Johnson, R LeGallo, W G Teague, B Vergales
Pulmonary interstitial glycogenosis is an interstitial lung disease of childhood that has been increasingly reported over the past decade. Here, we present a case of pulmonary interstitial glycogenosis associated with trisomy 21, pulmonary arterial hypertension, and congenital heart disease in a 34 week premature infant.
May 17, 2016: Journal of Neonatal-perinatal Medicine
Erica J Hines, Mark Walsh, Jane E Armes, Tonia Douglas, Jasneek Chawla
Childhood Interstitial lung disease (chILD) is an umbrella term used to define a broad range of rare, diffuse pulmonary disorders with altered interstitial structure that leads to abnormal gas exchange. Presentation of chILD in infancy can be difficult to differentiate from other common causes of diffuse lung disease. This article aimed at paediatricians provides an overview of interstitial lung disease presenting in infancy and includes key clinical features, a suggested approach to investigation and a summary of management...
April 2016: Journal of Paediatrics and Child Health
Won Kyoung Jhang, Seong Jong Park, Eun Lee, Song I Yang, Soo Jong Hong, Ju-Hee Seo, Hyung-Young Kim, Jeong-Jun Park, Tae-Jin Yun, Hyeong Ryul Kim, Yong-Hee Kim, Dong Kwan Kim, Seung-Il Park, Sang-Oh Lee, Sang-Bum Hong, Tae-Sun Shim, In-Cheol Choi, Jinho Yu
From 2006 to 2011, an outbreak of a particular type of childhood interstitial lung disease occurred in Korea. The condition was intractable and progressed to severe respiratory failure, with a high mortality rate. Moreover, in several familial cases, the disease affected young women and children simultaneously. Epidemiologic, animal, and post-interventional studies identified the cause as inhalation of humidifier disinfectants. Here, we report a 4-year-old girl who suffered from severe progressive respiratory failure...
May 2016: Journal of Korean Medical Science
Laura J Libby, Navneet Narula, Helen Fernandes, James F Gruden, David J Wolf, Daniel M Libby
Lymphangiomatosis (eg, generalized lymphatic anomaly) is an abnormal proliferation of lymphatic endothelial cells. It is often a childhood disease, but it may present in adulthood by infiltrating organs and cause obstruction, bleeding, or disruption of lymphatic flow. Pulmonary involvement may be mild or cause diffuse interstitial lung disease, airway obstruction, hemoptysis, chylothorax, chylopericardium, and culminate in respiratory failure. Treatment has been limited to surgical resection or drainage procedures because there is no accepted effective systemic therapy...
April 2016: Journal of the National Comprehensive Cancer Network: JNCCN
Nicole Hofmann, Dmitry Galetskiy, Daniela Rauch, Thomas Wittmann, Andreas Marquardt, Matthias Griese, Ralf Zarbock
RATIONALE: ABCA3 is a lipid transporter in the limiting membrane of lamellar bodies in alveolar type II cells. Mutations in the ABCA3 gene cause respiratory distress syndrome in new-borns and childhood interstitial lung disease. ABCA3 is N-terminally cleaved by an as yet unknown protease, a process believed to regulate ABCA3 activity. METHODS: The exact site where ABCA3 is cleaved was localized using mass spectrometry (MS). Proteases involved in ABCA3 processing were identified using small molecule inhibitors and siRNA mediated gene knockdown...
2016: PloS One
Thomas Wittmann, Sabrina Frixel, Stefanie Höppner, Ulrike Schindlbeck, Andrea Schams, Matthias V Kappler, Jan Hegermann, Christoph Wrede, Gerhard Liebisch, Anne Vierzig, Angela Zacharasiewicz, Matthias Kopp, Christian F Poets, Winfried Baden, Dominik Hartl, Anton H Van Kaam, Peter Lohse, Charalampos Aslanidis, Ralf Zarbock, Matthias Griese
RATIONALE: The ABCA3 gene encodes a lipid transporter in type II pneumocytes critical for survival and normal respiratory function. The frequent ABCA3 variant R288K increases the risk for neonatal respiratory distress syndrome among term and late preterm neonates, but its role in children's interstitial lung disease has not been studied in detail. OBJECTIVES: In a retrospective cohort study of 228 children with interstitial lung disease related to the alveolar surfactant system, the frequency of R288K was assessed and the phenotype of patients carrying a single R288K variant further characterized by clinical course, lung histology, computed tomography, and bronchoalveolar lavage phosphatidylcholine PC 32:0...
February 26, 2016: Molecular Medicine
Chiharu Ota, Masato Kimura, Shigeo Kure
ABCA3 is highly expressed in alveolar epithelial type 2 cells and is associated with surfactant homeostasis. Patients with ABCA3 mutations develop various respiratory complications, such as fatal respiratory distress syndrome or interstitial lung disease. We describe a patient with pulmonary fibrosis and emphysema with pulmonary hypertension, associated with compound heterozygous mutations of the ABCA3 gene. This is the first report showing that mutations in the ABCA3 gene lead to pulmonary fibrosis and emphysema, including combined pulmonary fibrosis and emphysema, in childhood...
June 2016: Pediatric Pulmonology
Julia Lee, Thomas Ray Sanchez, Yanhong Zhang, Sanjay Jhawar
Interstitial lung disease (ILD) is rare in infancy or early childhood. Differentiating between the different types of ILD is important for reasons of treatment, monitoring of clinical course and prognosis. We present a case of a 5-month old female with tachypnea and hypoxemia. The clinical suspicion of neuroendocrine cell hyperplasia of infancy (NEHI) was confirmed by high-resolution chest CT and subsequent lung biopsy. We conclude that high-resolution chest CT has characteristics findings that can be used as a non-invasive test to support the clinical diagnosis of neuroendocrine cell hyperplasia of infancy...
2015: Respiratory Medicine Case Reports
David Drummond, Caroline Thumerelle, Philippe Reix, Michael Fayon, Ralph Epaud, Annick Clement, Malika Mahloul, Delphine Habouria, Christophe Delacourt, Alice Hadchouel
INTRODUCTION: There is a lack of evidence concerning the effectiveness of immunoprophylaxis with palivizumab in children with childhood interstitial lung disease (chILD). In this retrospective study, we evaluated the effectiveness of palivizumab for decreasing the rate of RSV-related hospitalizations in children under the age of 24 months with chILD treated with corticosteroids. METHODS: A retrospective national study was conducted in France. Patients born between 2007 and 2013, diagnosed with chILD and on corticosteroid treatment were identified through the French online database for pediatric interstitial lung disease (Respirare(®) )...
July 2016: Pediatric Pulmonology
Thomas Semple, Catherine M Owens
Diffuse interstitial lung disease in children differs markedly from interstitial lung disease in adults and is a distinct entity. The childhood interstitial lung disease (ChILD) classification, devised in 2010 separates conditions into those occurring in infancy, and those not specific to infants, the later group containing many conditions related to systemic diseases (including connective tissue diseases and depositional/storage disorders), and conditions occurring in immunocompromised children. In this article, we briefly review normal lung growth and development...
May 2016: La Radiologia Medica
Hiroshi Kitazawa, Shigeo Kure
Interstitial lung disease (ILD) in childhood is a heterogeneous group of rare pulmonary conditions presenting chronic respiratory disorders. Many clinical features of ILD still remain unclear, making the treatment strategies mainly investigative. Guidelines may provide physicians with an overview on the diagnosis and therapeutic directions. However, the criteria used in different clinical studies for the classification and diagnosis of ILDs are not always the same, making the development of guidelines difficult...
2015: Clinical Medicine Insights. Circulatory, Respiratory and Pulmonary Medicine
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