[Alpha-1 antitrypsin deficiency]. / Déficit en alpha-1-antitrypsine.

Alpha-1 antitrypsin deficiency (DAAT) is a rare autosomal recessive genetic disorder caused by mutations in the Serpina1 gene. The role of alpha-1 antitrypsin (A1AT) is to maintain homeostasis in the acute phase of inflammation. DAAT manifests itself primarily in carriers of the Z allele, especially in the homozygous state, as emphysema and chronic liver disease. Although the diagnostic strategy is well defined and screening is fully reimbursed, DAAT is still largely underdiagnosed. In addition to simple lifestyle advice, which is essential once the diagnosis has been made, the specific treatment for severe deficiency and lung involvement is based on substitution with purified human A1AT, which slows the development of pulmonary emphysema.

Le déficit en alpha-1-antitrypsine (DAAT) est une maladie génétique autosomique récessive rare, due à la présence de mutations du gène Serpina1. Le rôle de l'alpha-1-antitrypsine (A1AT) réside dans le maintien de l'homéostasie de la phase aiguë de l'inflammation. Le DAAT se manifeste essentiellement chez les porteurs de l'allèle Z, spécialement à l'état homozygote, par un emphysème et une hépatopathie chronique. Bien que la stratégie diagnostique soit bien définie et le dépistage complètement remboursé, le DAAT est encore largement sous-diagnostiqué. Outre des conseils d'hygiène de vie simples indispensables une fois le diagnostic établi, le traitement spécifique en cas de déficit sévère et d'atteinte pulmonaire repose sur la substitution par A1AT humaine purifiée, qui permet de freiner le développement de l'emphysème pulmonaire.

[Pulmonology 2021: year in review]. / Pneumologie.

Among the new therapeutic developments in pulmonology during 2021, we have identified three topics of interest. A new biotherapy is now available for the management of severe uncontrolled non-Th2 asthma. In the field of pulmonary arterial hypertension, upfront triple therapy at the time of diagnosis is associated with a survival benefit in high-risk patients. Riociguat is a therapeutic option for patients that remain at intermediate risk despite treatment with iPDE5. Sotatercept, a promising new class of drug for treatment of group 1 PAH will soon be available. Finally, the use of transbronchial cryobiopsies as a valid alternative to surgical lung biopsy for the diagnosis of diffuse interstitial lung diseases will also be discussed in this review.

Parmi les nouveautés thérapeutiques en pneumologie au cours de l'année 2021, nous aborderons trois sujets. Une nouvelle biothérapie est désormais disponible pour la prise en charge de l'asthme sévère non contrôlé non T-Helper 2. Concernant l'hypertension artérielle pulmonaire (HTAP), une triple thérapie d'emblée au moment du diagnostic est associée à un bénéfice sur la survie chez les patients à haut risque. Le riociguat est une option thérapeutique lors d'HTAP restant à risque intermédiaire malgré un traitement par inhibiteur de la phosphodiestérase de type 5, et le sotatercept vise une nouvelle cible thérapeutique prometteuse pour l'HTAP du groupe 1. Enfin, la place des cryobiopsies transbronchiques comme alternative valable à la biopsie chirurgicale pour le diagnostic des pneumopathies interstitielles diffuses selon des recommandations récentes se précise.

[Air pollution and its impact on the respiratory system]. / Répercussion des polluants ­environnementaux sur le système ­respiratoire chez l'adulte.

Epidemiological studies have shown an increased respiratory morbidity and mortality as a consequence of exposure to air pollution. Short term exposure to air pollution is associated with an increased respiratory mortality and exacerbation of respiratory symptoms. Long term exposure to air pollution is associated with a progressive lung function decline as well as the development of chronic pulmonary diseases. In this article, we analyze the impact of major atmospheric pollutants on respiratory health and its impact on COPD, asthma and lung cancer. This review explores the impact of household air pollution on respiratory health as well as the relationship between ambient atmospheric air pollution and physical activity.

De nombreuses études épidémiologiques ont montré une augmentation de la morbidité et de la mortalité liées au système respiratoire en relation avec la pollution. L'exposition aux polluants atmosphériques provoque des effets à court terme, suite à une exposition à un pic de pollution, et des effets à long terme : déclin de la fonction pulmonaire et développement de ­pathologies chroniques. Cet article explore l'impact des différents polluants atmosphériques sur la BPCO, l'asthme ainsi que le ­cancer pulmonaire. Les conséquences de la pollution domestique sur le système respiratoire ainsi que l'impact de la pollution ­atmosphérique sur l'effort physique seront également abordés.

SARS-CoV-2 m-RNA Vaccine Response in Immunocompromised Patients: A Monocentric Study Comparing Cancer, People Living with HIV, Hematopoietic Stem Cell Transplant Patients and Lung Transplant Recipients.

Immunocompromised patients (ICPs) have a higher risk of developing severe forms of COVID-19 and experience a higher burden of complications and mortality than the general population. However, recent studies have suggested that the antibody response to SARS-CoV-2 mRNA vaccines could be highly variable among different ICPs. Using a collaborative, monocentric, prospective cohort study, we assessed anti-SARS-CoV-2 spike protein antibody titers following two and three doses of mRNA vaccines in four groups of ICPs (cancer [n = 232]: hematopoietic stem cell transplant [HSCT; n = 126] patients; people living with HIV [PLWH; n = 131]; and lung transplant [LT; n = 39] recipients) treated at Geneva University Hospitals; and healthy individuals (n = 49). After primo-vaccination, the highest anti-S antibody geometric mean titer (IU/mL) was observed in healthy individuals (2417 IU/mL [95% CI: 2327-2500]), the PLWH group (2024 IU/mL [95% CI:1854-2209]) and patients with cancer (840 IU/mL [95% CI: 625-1129]), whereas patients in the HSCT and LT groups had weaker antibody responses (198 IU/mL [95% CI: 108-361] and 7.3 IU/mL [95% CI: 2.5-22]). The booster dose conferred a high antibody response after 1 month in both PLWH (2500 IU/mL) and cancer patients (2386 IU/mL [95% CI: 2182-2500]), a moderate response in HSCT patients (521 IU/mL [95% CI: 306-885]) and a poor response in LT recipients (84 IU/mL [95% CI: 18-389]). Contemporary treatment with immunosuppressive drugs used in transplantation or chemotherapy was associated with a poor response to vaccination. Our findings confirmed the heterogeneity of the humoral response after mRNA vaccines among different ICPs and the need for personalized recommendations for each of these different groups.