The world of rare interstitial lung diseases (ILDs) is diverse and complex. Diagnosis and
therapy usually pose challenges. This review describes a selection of rare and ultrarare …

Bronchopulmonary dysplasia (BPD) is a multi-factorial disease that results from a
combination of clinical factors, including lung immaturity, mechanical ventilation, oxidative …

Pulmonary alveolar proteinosis – current and future therapeu... : Current Opinion in Pulmonary
Medicine Pulmonary alveolar proteinosis – current and future therapeutical strategies : Current …

Genetic disorders of surfactant dysfunction are a rare cause of chronic, progressive or
refractory respiratory failure in term and preterm infants. This review explores genetic …

Abstract Background The NKX2‐1‐related disorders (NKX2‐1‐RD) is a rare disorder
characterized by choreiform movements along with respiratory and endocrine abnormalities …

Abstract Background Since the latest 2017 French guidelines, knowledge about idiopathic
pulmonary fibrosis has evolved considerably. Methods Practical guidelines were drafted on …

Background to perform a functional analysis of a new NK2 homeobox 1 (NKX2-1) variant (c.
85_86del denominated NKX2-1DEL) identified in a family presenting with isolated …

Newly developing genomic technologies are an increasingly important part of clinical care
and thus, it is not only important to understand the technologies and their limitations, but to …

Children's interstitial and diffuse lung disease (chILD) comprises a large number of diverse
entities ranging from disorders of lung development, maturation and function unique in …

Interstitial lung disease can be an indication for lung transplant at any age, but it is a
particularly common indication for lung transplant in infants. Nevertheless, not all interstitial …