Diffuse Lung Disease in Biopsied Children 2 to 18 Years of Age. Application of the chILD Classification Scheme.

Rationale: Children's Interstitial and Diffuse Lung Disease (chILD) is a heterogeneous group of disorders that is challenging to categorize. In previous study, a classification scheme was successfully applied to children 0 to 2 years of age who underwent lung biopsies for chILD. This classification scheme has not been evaluated in children 2 to 18 years of age.

Pulmonary capillaritis in monozygotic twin boys.

Pulmonary hemorrhage can be classified as either proximal or distal (alveolar). Causes of proximal hemorrhage include infection, foreign body aspiration, pulmonary embolus, trauma, vascular malformation, and pulmonary hypertension. Causes of distal or diffuse alveolar hemorrhage are divided by the histologic presence or absence of capillaritis, which is characterized by inflammation of the alveolar interstitium and pulmonary capillary structure.

An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.

Background: There is growing recognition and understanding of the entities that cause interstitial lung disease (ILD) in infants. These entities are distinct from those that cause ILD in older children and adults.

Methods: A multidisciplinary panel was convened to develop evidence-based guidelines on the classification, diagnosis, and management of ILD in children, focusing on neonates and infants under 2 years of age.

Desquamative interstitial pneumonia in a child related to cigarette smoke.

An 8-year-old white male was referred to our clinic for a 1-year history of decreased appetite and no weight gain. His entire workup failed to demonstrate cystic fibrosis, or any infectious or immune-related diseases. Chest imaging and clinical picture suggested parenchymal lung disease.

Lung transplantation for childhood diffuse lung disease.

Background: Pediatric diffuse lung diseases comprise a heterogeneous group of rare lung disorders which may lead to end stage lung disease and referral for lung transplantation. Previous studies are limited by small numbers of patients with specific forms of diffuse lung disease. Children with all forms of diffuse lung disease who underwent lung transplantation at two pediatric centers were evaluated in terms of several pre- and post-transplant factors and compared to children with other end stage lung disorders.

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.

Known genetic causes of pediatric interstitial lung disease include disorders of surfactant metabolism, telomerase, and DNA repair. We report 4 children from 2 families with rapidly progressive and fatal pulmonary fibrosis. A novel DNA repair defect unrelated to the ataxia-telangiectasia mutated gene was found in 1 child from each family.

Diagnosis and management of diffuse lung disease in children.

Diffuse lung disease [DLD] in children comprises a group of heterogeneous, rare disorders. Despite the rarity of these diseases there has been a considerable increase in our knowledge of DLD in children including their diagnosis and management. Diagnosis of these diseases requires a detailed history and physical examination, diagnostic imaging, pulmonary function testing, selected and directed laboratory testing, bronchoalveolar lavage and in most cases an open lung biopsy.

Frequency, treatment, and functional outcome in children with hypersensitivity pneumonitis.

Background: Hypersensitivity pneumonitis is a rare interstitial lung disease and very few data regarding frequency, treatment and outcome exist for children. Children identified with hypersensitivity pneumonia from a Danish national cohort with diffuse interstitial lung disease form the basis of this study focused on disease frequency, treatment, and functional outcome.

Methods: Seventy-three children with clinical and radiological signs of interstitial lung disease verified by lung biopsy were identified over a 12-year period.

Interstitial lung disease in children.

Purpose Of Review: In this review, we discuss the recent advances in our understanding of the cause, pathogenesis, presentation, diagnosis, treatment, and prognosis of interstitial lung disease (ILD) in children.

Recent Findings: The classification of ILD syndromes in children greater than 2 years of age is based largely on adult classification schemes. In children less than 2 years of age, classification has been developed and evaluated pathologically.

Evaluation and management of pulmonary disease in ataxia-telangiectasia.

Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double-stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A-T and often progresses with age and neurological decline.

Serial measurements of lung function in a cohort of young children with bronchopulmonary dysplasia.

Objective: We aimed to prospectively and longitudinally measure lung function in a cohort of children with bronchopulmonary dysplasia (BPD) during their first 3 years of life.

Methods: Forty-four children with BPD with a mean (+ or - SD) gestational age of 25.6 (+ or - 1.

Interstitial Lung Disease in Children Older Than 2 Years.

The spectrum of childhood interstitial lung diseases (chILD) encompasses a group of heterogeneous, rare disorders in children characterized by diffuse pulmonary infiltrates and disordered gas exchange. Whereas the disorders that present in early life are unique to children, those that present in older children are also seen in adults. This review will concentrate on chILD presenting in children older than 2 years of age with a focus on the idiopathic interstitial pneumonias, connective tissue diseases, alveolar hemorrhage, and hypersensitivity pneumonitis.

Neuroendocrine cell hyperplasia of infancy: diagnosis with high-resolution CT.

Objective: Neuroendocrine cell hyperplasia of infancy is a form of childhood interstitial lung disease originally reported as persistent tachypnea of infancy. Reports of small series of cases and anecdotal experience have suggested that this disorder may have a consistent CT pattern. The purpose of this study was to review the CT findings in children with neuroendocrine cell hyperplasia of infancy to determine the findings at high-resolution CT, the diagnostic accuracy of CT compared with biopsy, and interrater reliability.

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. The importance of granulocyte/macrophage colony-stimulating factor (GM-CSF) in the pathogenesis of PAP has been confirmed in humans and mice, wherein GM-CSF signaling is required for pulmonary alveolar macrophage catabolism of surfactant. PAP is caused by disruption of GM-CSF signaling in these cells, and is usually caused by neutralizing autoantibodies to GM-CSF or is secondary to other underlying diseases.

Bronchiolitis obliterans in children.

Purpose Of Review: In this review, we discuss recent advances in our understanding of the etiology, pathology and pathogenesis, clinical presentation, diagnosis, treatment, and outcome of bronchiolitis obliterans in the nontransplant, pediatric population.

Recent Findings: The diagnosis of bronchiolitis obliterans in children can be made with confidence based on clinical presentation, particularly with a history of adenovirus bronchiolitis or pneumonia, fixed obstructive lung disease on pulmonary function testing, and characteristic changes of mosaic perfusion, vascular attenuation, and central bronchiectasis on chest high-resolution computed tomography, thus avoiding the need for lung biopsy in most patients. Patients with postinfectious bronchiolitis obliterans generally have chronic, nonprogressive disease; in contrast, patients with bronchiolitis obliterans from Stevens-Johnson syndrome often have progressive disease that may require lung transplantation.

Diffuse lung disease in young children: application of a novel classification scheme.

Rationale: Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity and differences in the spectrum of disease between adults and young children.

Objectives: A multidisciplinary working group was formed to: (1) apply consensus terminology and diagnostic criteria for disorders presenting with diffuse lung disease in infancy; and (2) describe the distribution of disease entities, clinical features, and outcome in young children who currently undergo lung biopsy in North America.

Methods: Eleven centers provided pathologic material, clinical data, and imaging from all children less than 2 years of age who underwent lung biopsy for diffuse lung disease from 1999 to 2004.

Diffuse alveolar hemorrhage syndromes in children.

Purpose Of Review: In this review we discuss the changing concepts of diffuse alveolar hemorrhage in children in terms of an expanded differential diagnosis and new approaches to diagnosis and treatment.

Recent Findings: More commonly found in adults, pulmonary capillaritis, an immune-mediated form of diffuse alveolar hemorrhage often associated with systemic disease, has been recently reported in children. In a series of eight children with pulmonary capillaritis, serology for immune-mediated disorders was positive in only half.

Serum KL-6 as a marker for bronchiolitis obliterans syndrome after lung transplantation.

Bronchiolitis obliterans (BO) is the pathologic manifestation of chronic allograft rejection in lung transplant recipients and specific diagnosis requires invasive tests. BO causes progressive obstruction of the small airways. The term bronchiolitis obliterans syndrome (BOS) is a clinical surrogate for the histopathologic diagnosis of BO and is measured by lung function testing.

Successful treatment of bronchiolitis obliterans in a bone marrow transplant patient with tumor necrosis factor-alpha blockade.

Bronchiolitis obliterans (BO) in children is a rare, inflammatory/fibrosing process involving the small airways that often results in progressive, irreversible obstructive pulmonary disease. Because treatment has focused mainly on supportive care and generally unsuccessful immunosuppression, children with BO experience significant morbidity and mortality. We report a case of biopsy-proven BO after bone marrow transplantation in a child who, after failed corticosteroid therapy, was treated with infliximab, a monoclonal antibody with binding specificity for human tumor necrosis factor-alpha.

Persistent tachypnea of infancy is associated with neuroendocrine cell hyperplasia.

We sought to determine the clinical course and histologic findings in lung biopsies from a group of children who presented with signs and symptoms of interstitial lung disease (ILD) without identified etiology. Patients were identified from the pathology files at the Texas Children's Hospital who presented below age 2 years with persistent tachypnea, hypoxia, retractions, or respiratory crackles, and with nonspecific and nondiagnostic lung biopsy findings. Age-matched lung biopsy controls were also identified.

Pulmonary capillaritis in children: a review of eight cases with comparison to other alveolar hemorrhage syndromes.

Objective: To review clinical, laboratory, and outcome characteristics of children diagnosed with pulmonary capillaritis (PC), a small-vessel vasculitis, presenting as diffuse alveolar hemorrhage (DAH), and to compare these findings with those for children with other alveolar hemorrhage syndromes.

Study Design: A retrospective chart review of patients who underwent a lung biopsy because of a clinical suggestion of pulmonary hemorrhage.

Results: PC was identified in 8 of 23 patients.