Interstitial lung disease child

Childhood interstitial lung disease (chILD) is a large and heterogeneous group of disorders characterized by diffuse lung parenchymal markings on chest imaging and clinical signs such as dyspnea and hypoxemia from functional impairment. While some children already present in the neonatal period with interstitial lung disease (ILD), others develop ILD during their childhood and adolescence. A timely and accurate diagnosis is essential to gauge treatment and improve prognosis. Supportive care can reduce symptoms and positively influence patients' quality of life; however, there is no cure for many of the chILDs...

BACKGROUND: Gain-of-function mutations in STING1 (also known as TMEM173) which result in constitutive activation of STING, have been reported to cause STING-associated vasculopathy with onset in infancy (SAVI). Although a wider spectrum of associated manifestations and perturbations in disease onset have been observed since its description, the genotype-phenotype correlations are not definite, and there is no established treatment protocol for SAVI. CASE PRESENTATION: Herein, we report a kindred, heterozygous STING mutation (p...

The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data-entry software system. The demographic characteristics, clinical, laboratory, radiologic findings, diagnoses, and treatment characteristics of the patients were evaluated...

COPA syndrome is a recently described autosomal dominant inborn error of immunity characterized by high titer autoantibodies and interstitial lung disease, with many individuals also having arthritis and nephritis. Onset is usually in early childhood, with unique disease features including alveolar hemorrhage, which can be insidious, pulmonary cyst formation, and progressive pulmonary fibrosis in nonspecific interstitial pneumonia or lymphocytic interstitial pneumonia patterns. This review explores the clinical presentation, genetics, molecular mechanisms, organ manifestations, and treatment approaches for COPA syndrome, and presents a diagnostic framework of suggested indications for patient testing...

Chronic lung disease in children with systemic juvenile idiopathic arthritis (SJIA-LD) is an emerging and potentially life-threatening disease complication. Despite recent descriptions of its clinical spectrum, preliminary immunologic characterization, and proposed hypotheses regaarding etiology, optimal approaches to diagnosis and management remain unclear. Here, we review the current clinical understanding of SJIA-LD, including the potential role of biologic therapy in disease pathogenesis, as well as the possibility of drug reactions with eosinophilia and systemic symptoms (DRESS)...

BACKGROUND: Surgical lung biopsy (SLB) or video-assisted thoracic surgery (VATS) has been the traditional gold standard modality for diagnosing paediatric interstitial lung diseases. Cryobiopsy of the lung has recently been shown to be a novel technique with very good sensitivity and specificity in the diagnosis of various interstitial lung disorders in adults. Although there are a few case reports of the same in children, pediatric cryo lung biopsies are rarely performed due to the lack of the necessary equipment and the lack of expertise...

Surfactant deficiency is a rare genetic disease. Clinical presentation is manifested with a large specter that varies from severe form to lethal in neonatal age and to progressive, chronic form of the interstitial lung disease in older child. In this manuscript we want to present the case of a two years and 7-month-old child, which was diagnosed with Pediatric Acute Respiratory Distress Syndrome (PARDS) as consequence of bilateral interstitial pneumonia. The child was treated in a supportive way, placed in mechanical ventilation, antibiotic therapy and corticosteroid...

BACKGROUND: Macrophage activation syndrome (MAS) is a severe and life-threatening syndrome associated with autoimmune diseases. The coexistence of MAS and juvenile dermatomyositis (JDM) is not well reported. This report describes a case of JDM with MAS and summarizes the clinical characteristics and prognosis of MAS in patients with JDM. CASE PRESENTATION: The patient was a 15-year-old female with JDM, presenting with heliotrope rash, muscle weakness, increased muscle enzyme, anti-nuclear matrix protein 2 (NXP2) antibody, and muscle biopsy consistent with JDM...

BACKGROUND: Juvenile dermatomyositis (jDM) is the most common idiopathic inflammatory myopathy of childhood. Amyopathic or hypomyopathic courses have been described. CASE PRESENTATION: We present the case of a 4-year-old patient with MDA5 antibody positive jDM and interstitial lung disease. In our patient, typical symptoms of jDM with classical skin lesions, arthritis, proximal muscle weakness, and ulcerative calcifications were observed. Due to the severity of the disease and the pulmonary changes, therapy with the Janus kinase (JAK) inhibitor ruxolitinib was added to the therapy with corticosteroids, intravenous immunoglobulins (IVIG) and hydroxychloroquine leading to a fast and sustained remission...

BACKGROUND: Childhood-onset rheumatoid arthritis (CORA), known as rheumatoid factor (RF)-positive juvenile idiopathic arthritis is a type of juvenile idiopathic arthritis that shares the same genetic factors and clinical features as adult-onset rheumatoid arthritis. In Africa, CORA hasn't been the subject of a specific study. OBJECTIVES: The aim of this study is to describe the clinical features, disease activity, functional disability, and treatment of CORA at diagnosis in Senegal and compare the findings to other CORA populations...

BACKGROUND: Ataxia-telangiectasia (A-T) is a rare autosomal recessive DNA repair disorder, characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiation sensitivity, premature aging and predisposition to cancer. Although the association with autoimmune and chronic inflammatory conditions such as vitiligo, thrombocytopenia and arthritis has occasionally been reported, an onset with articular involvement at presentation is rare...

BACKGROUND: Medical complexity of childhood interstitial lung disease (chILD) with connective tissue disease (CTD) poses a considerable challenge to pediatricians. METHODS: Clinical characteristics, laboratory findings, pulmonary function tests (PFTs), treatments and outcomes obtained for patients with CTD-chILD were analyzed in a prospective study. RESULTS: Patients' median age at diagnosis was 7 years old. About 29.4% (15/51) suffered rapidly progressive childhood ILD (RP-chILD) with a high mortality rate (33...

RATIONALE: Alternatives to center-based pulmonary rehabilitation are needed to improve patient access to this important therapy. A critical challenge to overcome is how to maximize safety of unsupervised exercise for at-risk patients. We investigated if a novel remote monitoring-enabled mobile health (mHealth) program is safe, feasible, and effective for patients who experience exercise-induced hemoglobin desaturation. METHODS: An interstitial lung disease (ILD) commonly associated with pronounced exercise desaturation was investigated - the rare, female-predominant ILD lymphangioleiomyomatosis (LAM)...

INTRODUCTION: Fibroblast growth factor 10 (FGF10) is a signaling molecule with a well-established role for lung branching morphogenesis. Rare heterozygous, deleterious variants in the FGF10 gene are known causes of the lacrimo-auriculo-dento-digital (LADD) syndrome and aplasia of lacrimal and salivary glands. Previous studies indicate that pathogenic variants in FGF10 can cause childhood Interstitial Lung Disease (chILD) due to severe diffuse developmental disorders of the lung, but detailed reports on clinical presentation and follow-up of affected children are lacking...

Childhood interstitial lung disease (chILD) is a heterogeneous group of diffuse lung diseases that can be challenging to diagnose. With relative rarity of individual entities, data are limited on disease prevalence, care patterns, and healthcare utilization. The objective of this study was to evaluate chILD prevalence and review diagnostic and clinical care patterns at our center. A single-center, retrospective cohort study was conducted of patients receiving care at the Children's Hospital of Philadelphia (CHOP) between 1 January 2019 and 31 December 2021...

BACKGROUND: Restrictive lung disease leading to abnormal lung function in kidney transplant recipients is commonly associated with noninfectious complications or medications used for post-transplant immunosuppression. Herein, we report an interesting case of pediatric kidney transplant recipient with weight loss and abnormal spirometry who was diagnosed to have late-onset Pneumocystis pneumonia. CASE REPORT: A 17-year-old male patient with a history of allergic rhinitis, mild persistent asthma, and deceased donor kidney transplant, performed 18 months prior, presented for routine evaluation of his asthma to the pulmonology clinic...

INTRODUCTION: Childhood interstitial and diffuse lung disease (chILD) encompasses a broad spectrum of rare disorders. The Children's Interstitial and Diffuse Lung Disease Research Network (chILDRN) established a prospective registry to advance knowledge regarding etiology, phenotype, natural history, and management of these disorders. METHODS: This longitudinal, observational, multicenter registry utilizes single-IRB reliance agreements, with participation from 25 chILDRN centers across the U...

Background: Interstitial lung disease (ILD) is one of the most difficult conditions in pulmonology due to difficulties in diagnosing, classifying, and treating this condition. They require invasive approaches to diagnose (e.g., lung biopsy), non-applicable methods (e.g., lung function tests in newborns), or potentially non-accessible methods (e.g., genetic testing in not-well-equipped facilities, and several weeks are required for results to be announced). They represent a heterogeneous group of diseases in which the alveolar epithelium, parenchyma, and capillaries of the lungs are damaged, which leads to changes in the pulmonary interstitium, proliferation of connective tissue, and thickening of the alveolar-capillary membranes and alveolar septa...

PURPOSE: Childhood interstitial lung disease (chILD) is an umbrella concept covering a wide range of rare lung diseases, many of which are unique to childhood. The diagnosis is based on clinical presentation, multidetector computed tomography (MDCT), genetic testing, lung-function testing, and lung biopsy. Because knowledge of the usefulness of MDCT pattern recognition in ChILD is at present limited, we examined the occurrence of MDCT patterns in children with histologically confirmed interstitial lung disease...

Fetal lung interstitial tumor (FLIT) is an extremely rare pediatric lung tumor that shares radiological features with congenital pulmonary malformations (cPAM) and other lung neoplasms. A review of the literature, together with the first European case, are herein reported. A systematic and manual search of the literature using the keyword "fetal lung interstitial tumor" was conducted on PUBMED, Scopus, and SCIE (Web of Science). Following the PRISMA guidelines, 12 articles were retrieved which describe a total of 21 cases of FLIT, and a new European case is presented...