Background Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. Methods We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. Results Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects. Conclusions Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was <20%. Response to therapies needs to be ascertained in randomised controlled trials.

Patients with interstitial lung disease due to surfactant protein C (SFTPC) mutations are rare and not well characterised.We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a provenSFTPCmutation. We analysed clinical courses, interventions and outcomes, as well as histopathological and radiological interrelations.17 patients (seven male) were followed over a median of 3 years (range 0.3–19). All patients were heterozygous carriers of autosomal dominantSFTPCmutations. Three mutations (p.L101P, p.E191 K and p.E191*) have not been described before in the context of surfactant protein C deficiency. Patients with alterations in the BRICHOS domain of the protein (amino acids 94–197) presented earlier. At follow-up, one patient was healthy (2 years), six patients were “sick-better” (2.8 years, range 0.8–19), seven patients were “sick-same” (6.5 years, 1.3–15.8) and three patients were “sick-worse” (0.3 years, 0.3–16.9). Radiological findings changed from ground-glass to increasing signs of fibrosis and cyst formation with increasing age. Empiric treatments had variable effects, also in patients with the same genotype.Prospective studies with randomised interventions are urgently needed and can best be performed in the framework of international registers.

Background: We aimed to evaluate anxiety among children with cystic fibrosis (CF) and their mothers related to the COVID‐19 pandemic.Methods: A total of 45 patients with CF and their mothers were enrolled in the study together with 90 age‐matched healthy children and their mothers as a control group. The State and Trait Anxiety Inventory (STAI) was administered by teleconference with children aged 13 to 18 years old and their mothers. The STAI for children was administered with children aged 9 to 12 years. Results were compared with age‐matched healthy children and their mothers. The relationship between anxiety scores of children with CF and their mothers was evaluated by comparing with clinical data of children with CF. At the conclusion of the teleconference, mothers were asked whether their anxiety had changed as a result of the interview.Results: It was found that healthy children aged 13 to 18 years had higher state anxiety scores than age‐matched children with CF. Mothers of children with CF had higher trait anxiety scores, especially those of children aged 0 to 12 years, than mothers of healthy children (P < .05). For mothers of children with CF, state anxiety scores were higher among those whose children had chronic Pseudomonas infection (P < .05). Most mothers of children with CF stated that their anxiety decreased following the interview.Conclusion: The COVID‐19 pandemic may increase anxiety among mothers of children with CF as well those with healthy children. However, COVID‐19 had no effect on the anxiety of children with CF. Informing parents of children with CF about COVID‐19 by teleconference may decrease anxiety.

Lower respiratory tract infections including mainly pneumonia represent an important public health problem leading to high mortality and mobidity rates in children aged below five years in developing countries including our country. Vitamin D deficiency has been associated with increased risk of rickets/osteomalacia, various cancers, autoimmune diseases, hyperproliferative skin diseases, cardiovascular system diseases and infectious diseases. Vitamin D has an important role in cellular and humoral immunity and pulmonary functions. Vitamin D deficiency and lower respiratory tract infection are common health problems in children in our country and no clinical study investigating the relationship between these problems has been conducted so far. In this case-control study, we aimed to assess the association between vitamin D level and lower respiratory tract infection in children. Sixty-three children aged between six months and five years with lower respiratory infections and 59 age-matched children who had no history of respiratory symptoms in the last month and no accompanying chronic disease were compared in terms of vitamin D levels. The children in the patient group were also evaluated by the clinical picture. No significant correlation was found between vitamin D levels and lower respiratory tract infection in terms of disease and its severity. However, it was found that vitamin D deficiency/ insufficiency was observed with a high rate in all children included in the study. Although no correlation was found between vitamin D level and lower respiratory tract infection, it is recommended that vitamin D level should be measured in children with lower respiratory tract infection and vitamin D supplementation should be given to all children especially in winter months based on the fact that the level of vitamin D was lower than normal in approximately half of the children included in the study and considering the effects of vitamin D on infections, pulmonary functions and immunity.

Background: Paediatric diffuse alveolar haemorrhage (DAH) is a rare heterogeneous condition with limited knowledge on clinical presentation, treatment and outcome.Methods: A retrospective, descriptive multicentre follow-up study initiated from the European network for translational research in children's and adult interstitial lung disease (Cost Action CA16125) and chILD-EU CRC (the European Research Collaboration for Children's Interstitial Lung Disease). Inclusion criteria were DAH of any cause diagnosed before the age of 18 years.Results: Data of 124 patients from 26 centres (15 counties) were submitted, of whom 117 patients fulfilled the inclusion criteria. Diagnoses were idiopathic pulmonary haemosiderosis (n=35), DAH associated with autoimmune features (n=20), systemic and collagen disorders (n=18), immuno-allergic conditions (n=10), other childhood interstitial lung diseases (chILD) (n=5), autoinflammatory diseases (n=3), DAH secondary to other conditions (n=21) and nonspecified DAH (n=5). Median (IQR) age at onset was 5 (2.0–12.9) years. Most frequent clinical presentations were anaemia (87%), haemoptysis (42%), dyspnoea (35%) and cough (32%). Respiratory symptoms were absent in 23%. The most frequent medical treatment was systemic corticosteroids (93%), hydroxychloroquine (35%) and azathioprine (27%). Overall mortality was 13%. Long-term data demonstrated persistent abnormal radiology and a limited improvement in lung function.Conclusions: Paediatric DAH is highly heterogeneous regarding underlying causes and clinical presentation. The high mortality rate and number of patients with ongoing treatment years after onset of disease underline that DAH is a severe and often chronic condition. This large international study paves the way for further prospective clinical trials that will in the long term allow evidence-based treatment and follow-up recommendations to be determined.