Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes

International audienc

Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes

International audienc

Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes

International audienc

Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes

International audienc

Clinical problems in rare interstitial lung diseases

International audienceIntroduction: Interstitial lung disease ( LD) in children (chlLD) is rare and Often severe. This study aims at analyzing the ep demiology of chlLD in France from 2000 to 2022.Methods: This study was retrospective and multicentric, A questionnaire was sent to all the RespiRare centers to collect the clinical, radiological, biological, histological and genetic data of the patients.Results: 617 patients (0-18 years) were included in 42 centers. 84 patients were excluded. The median age at diagnosis was 0.3 years with 17% of familial forms, The main investigations performed were: chest CT scan (92%), bronchoalveolar avage (52%), genetic ana ysis (78%), lung biopsy (23%). The main treatments were: corticosteroids (93%), oxygen therapy (52.2%), enteral nutrition (29%), hydroxychloroqu•ne (16%), azThromycin (26%), immunosuppressive drugs (210/0). The follovFup time was from O to 18,9 years (median duration 3,5years). The survival rate at 5 years was 68%. The overall incidence and preva ence were estimated at 38/million and 35/million children respectively.Conclusion: This arge chlLD epidemiological study confirms the Span •sh data with a higher incidence and prevalence than previous y described. The arge amount Of phenotypic data collected will allow better understanding ch LD and harmonizing their management

Clinical problems in rare interstitial lung diseases

International audienceIntroduction: Interstitial lung disease ( LD) in children (chlLD) is rare and Often severe. This study aims at analyzing the ep demiology of chlLD in France from 2000 to 2022.Methods: This study was retrospective and multicentric, A questionnaire was sent to all the RespiRare centers to collect the clinical, radiological, biological, histological and genetic data of the patients.Results: 617 patients (0-18 years) were included in 42 centers. 84 patients were excluded. The median age at diagnosis was 0.3 years with 17% of familial forms, The main investigations performed were: chest CT scan (92%), bronchoalveolar avage (52%), genetic ana ysis (78%), lung biopsy (23%). The main treatments were: corticosteroids (93%), oxygen therapy (52.2%), enteral nutrition (29%), hydroxychloroqu•ne (16%), azThromycin (26%), immunosuppressive drugs (210/0). The follovFup time was from O to 18,9 years (median duration 3,5years). The survival rate at 5 years was 68%. The overall incidence and preva ence were estimated at 38/million and 35/million children respectively.Conclusion: This arge chlLD epidemiological study confirms the Span •sh data with a higher incidence and prevalence than previous y described. The arge amount Of phenotypic data collected will allow better understanding ch LD and harmonizing their management

Clinical problems in rare interstitial lung diseases

International audienceIntroduction: Interstitial lung disease ( LD) in children (chlLD) is rare and Often severe. This study aims at analyzing the ep demiology of chlLD in France from 2000 to 2022.Methods: This study was retrospective and multicentric, A questionnaire was sent to all the RespiRare centers to collect the clinical, radiological, biological, histological and genetic data of the patients.Results: 617 patients (0-18 years) were included in 42 centers. 84 patients were excluded. The median age at diagnosis was 0.3 years with 17% of familial forms, The main investigations performed were: chest CT scan (92%), bronchoalveolar avage (52%), genetic ana ysis (78%), lung biopsy (23%). The main treatments were: corticosteroids (93%), oxygen therapy (52.2%), enteral nutrition (29%), hydroxychloroqu•ne (16%), azThromycin (26%), immunosuppressive drugs (210/0). The follovFup time was from O to 18,9 years (median duration 3,5years). The survival rate at 5 years was 68%. The overall incidence and preva ence were estimated at 38/million and 35/million children respectively.Conclusion: This arge chlLD epidemiological study confirms the Span •sh data with a higher incidence and prevalence than previous y described. The arge amount Of phenotypic data collected will allow better understanding ch LD and harmonizing their management