Surfactant protein B deficiency: the RespiRare cohort.

Autor:	Fleury M; Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France., Delestrain C; Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France., Roditis L; Pediatric Pulmonology Department, University Hospital, Toulouse, France., Perisson C; Pediatric Department, La Réunion Sites Sud University Hospital, Saint-Pierre, France., Renoux MC; Pediatric Pulmonology Department, University hospital, Montpellier, France., Thumerelle C; Pediatric Pulmonology Department, Jeanne de Flandre University Hospital, Lille, France., Epaud R; Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France.; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France., Fletcher C; Pediatrics Department, Centre Hospitalier Intercommunal de Créteil, Creteil, France., Jedidi N; Clinical research Department, Saint-Antoine Hospital, Sorbonne University, Paris, France., Coulomb L'Hermine A; Pathology Department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France., Corvol H; Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Inserm UMR S_938, Centre de Recherche Saint Antoine, Sorbonne University, Paris, France., Ducou le Pointe H; Pediatric Radiology department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France., Fanen P; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.; Genetic Department, Henri Mondor Hospital, APHP, Université Paris-Est Créteil Val de Marne, Creteil, France., Sileo C; Pediatric Radiology department, Assistance Publique Hôpitaux de Paris, Armand Trousseau Hospital, Sorbonne University, Paris, France., Louvrier C; AP-HP, Molecular Genetics Unit, Hôpital Armand Trousseau, Sorbonne University, Paris, France.; Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France., de Becdelievre A; INSERM, IMRB, Université Paris-Est Créteil Val de Marne, Creteil, France.; Genetic Department, Henri Mondor Hospital, APHP, Université Paris-Est Créteil Val de Marne, Creteil, France., Legendre M; AP-HP, Molecular Genetics Unit, Hôpital Armand Trousseau, Sorbonne University, Paris, France.; Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France., Nathan N; Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France nadia.nathan@aphp.fr.; Inserm UMR_S933, Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne University, Paris, France.
Jazyk:	angličtina
Zdroj:	Thorax [Thorax] 2024 Dec 06. Date of Electronic Publication: 2024 Dec 06.
DOI:	10.1136/thorax-2024-221947
Abstrakt:	Childhood interstitial lung diseases (chILD) are rare and usually severe disorders. Among them, very rare cases of surfactant protein (SP)-B deficiencies have been reported so far and are usually associated with fatal forms of chILD. The RespiRare network allows the collection of precise phenotypic and genotypic information. This study that reports a series of 11 SP-B-deficient patients underscores two key observations: patients with severe loss-of-function variants associated with SP-B complete deficiency presented symptoms at birth and died at a median age of 1 month; and extremely rare cases of hypomorphic variants with partially preserved SP-B function may allow survival. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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