Genetics of Interstitial Lung Diseases: A State-of-the-Art Review.

Advancements in genetics and genomics continue to further our understanding of their contributions to the development of interstitial lung diseases. This state-of-the-art clinical review synthesizes current knowledge of the contribution of genetics when evaluating patients suspected to have ILD. We consider highly penetrant Mendelian disorders as well as common variants conferring smaller risk that act in concert with other genetic and acquired risk factors.

Stratifying GAP Stages by MUC5B rs35705950 T-Allele Carriage Refines Survival Prediction in IPF.

The genetic contribution to idiopathic pulmonary fibrosis (IPF) has become increasingly evident, enabling its translation into clinical practice. MUC5B rs35705950 has emerged as a promising prognostic biomarker. The gender-age-physiology (GAP)-model is regularly used for IPF survival prediction.

Telomere biology disorders in lung transplantation: Clinical challenges and management strategies.

Telomeres, repetitive DNA sequences at the ends of chromosomes, play a crucial role in maintaining genomic stability. In recent years, their significance in lung transplantation has gained growing attention. Shortened telomeres-whether due to inherited telomeropathies or acquired attrition-have emerged as a risk factor for various pulmonary diseases, particularly pulmonary fibrosis, which is a leading indication for lung transplantation.

Penetrance of interstitial lung disease and lung cancer in carriers of or pathogenic variants.

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Cluster analysis identifies three clinical patterns of patients with systemic autoimmune diseases and anti-Ku antibodies.

Objective: To determine distinct patterns of patients with autoimmune diseases harbouring anti-Ku antibodies and their respective prognosis.

Methods: Anti-Ku-positive patients were retrieved through four immunology departments. Clusters were derived from unsupervised multiple correspondence analysis, not including the disease's diagnosis, followed by hierarchical clustering.

A non-resolving cough in a 41-year-old woman: a case of familial pulmonary fibrosis.

https://bit.ly/42jJ3aO.

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.

Background And Objective: Approximately 30% of individuals diagnosed with familial pulmonary fibrosis (FPF) exhibit a pathogenic variant upon genetic analysis. We established a genetic Multidisciplinary Discussion (geneMDD) aimed to enhance expertise in diagnosing and managing FPF. This study aimed at prospectively evaluating the impact of geneMDD on diagnosis and treatment in patients referred to geneMDD.

Navigating interstitial lung disease associated with rheumatoid arthritis (RA-ILD): from genetics to clinical landscape.

Rheumatoid arthritis (RA) is a systemic autoimmune disease that affects millions of people worldwide and is characterized by persistent inflammation, pain, and joint destruction. In RA, the dysregulation of the immune system is well documented. However, the genetic basis of the disease is not fully understood, especially when extra-articular organs are involved.

Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency.

https://bit.ly/3TMWKK9.

Value of lung ultrasonography for screening interstitial lung disease in patients with rheumatoid arthritis.

Objectives: Interstitial lung disease (ILD) is a common complication of rheumatoid arthritis (RA) usually diagnosed with high-resolution CT (HRCT), but emerging data suggest the interest of lung ultrasonography (LUS) for screening RA-ILD. This study aimed to determine the ability of LUS to screen ILD in RA.

Methods: This was an observational monocenter study of RA patients.

Real-life use of the PEXIVAS reduced-dose glucocorticoid regimen in granulomatosis with polyangiitis and microscopic polyangiitis.

Background: The PEXIVAS (Plasma exchange and glucocorticoids in severe antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis) trial showed that a reduced-dose glucocorticoid regimen (redGC) was non-inferior to a standard-dose regimen (standGC) with respect to death or end-stage kidney disease (ESKD) in patients with ANCA-associated vasculitis (AAV). However, the primary endpoint did not include disease progression or relapse, cyclophosphamide was the main induction therapy and rituximab (RTX)-treated patients tended to have a higher risk of death or ESKD with redGC. We aimed to evaluate the real-world use of redGC.

Recurrent respiratory papillomatosis in adults with lower respiratory tract involvement: a retrospective study of the OrphaLung and GETIF networks.

Background: Recurrent respiratory papillomatosis (RRP) is a rare respiratory disease primarily caused by chronic human papillomavirus (HPV) infection of serotypes 6 and 11. It manifests in childhood (juvenile-onset recurrent respiratory papillomatosis (JoRRP)) and adulthood (adult-onset recurrent respiratory papillomatosis (AoRRP)), leading to progressive obstruction by papillomas in the upper airway and occasionally in the lower respiratory tract (LRT), including the lungs, with a potential for malignant transformation. This study aimed to delineate the characteristics of JoRRP and AoRRP with LRT involvement in adulthood.

Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey.

Background: Advances in the field of genetics of interstitial lung diseases (ILDs) have led to the recent consensus statements made by expert groups. International standards for genetic testing in ILD have not yet been established. We aimed to examine current real-world strategies employed by pulmonologists working with familial ILD.

Childhood interstitial lung disease survivors in adulthood: a European collaborative study.

Background: Interstitial lung disease is rarer in children than adults, but, with increasing diagnostic awareness, more cases are being discovered. The prognosis of childhood interstitial lung disease is often poor, but increasing numbers are now surviving into adulthood.

Aim: To characterise childhood interstitial lung disease survivors and identify their impact on adult interstitial lung disease centres.

Lack of efficacy of tocilizumab in acute exacerbation of pulmonary fibrosis.

https://bit.ly/3ClggYb.

Pulmonary fibrosis in patients with autoimmune pulmonary alveolar proteinosis: a retrospective nationwide cohort study.

Background: Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare disease that may progress towards pulmonary fibrosis. Data about fibrosis prevalence and risk factors are lacking.

Methods: In this retrospective multicentre nationwide cohort, we included patients newly diagnosed with aPAP between 2008 and 2018 in France and Belgium.

Rare genetic interstitial lung diseases: a pictorial essay.

The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual interstitial pneumonia or unclassifiable fibrosis. In children, the monogenic causes of pulmonary fibrosis are dominated by mutations in surfactant-related genes.