Evidence map›Paper›PMID 41090249›Full record

ArticlePediatric pulmonology2025

Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.

Manon Fleury, Céline Delestrain, Alice Hadchouel, Julie Mazenq, Myriam Benhamida, Anne-Sophie Bernard, Raphaël Borie, Jacques Brouard, Harriet Corvol, Pierrick Cros and 25 more

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Article in Pediatric pulmonology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

35 authors.

Manon FleuryPediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Céline DelestrainPediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.
Alice HadchouelPediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France.ORCID 0000-0001-7451-9890
Julie MazenqPediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), INSERM, INRAE, AP-HM - Aix-Marseille University, Marseille, France.
Myriam BenhamidaGeneral Paediatrics Department, CHU Nantes, Nantes, France.
Anne-Sophie BernardNeonatology Department, Groupe hospitalier Artois-Ternois, Arras, France.
Raphaël BorieService de Pneumologie A Hôpital Bichat, APHP, Inserm UMR-S 1152 PHERE, Université Paris Cité, Paris, France.
Jacques BrouardMedical Pediatric Department, CHU de Caen, Inserm UMRS 1311, DYNAMICURE, UNICAEN, Caen, France.
Harriet CorvolPediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.ORCID 0000-0002-7026-7523
Pierrick CrosPediatric Department, University Hospital, Brest, France.
Christophe DelacourtPediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France.ORCID 0000-0002-0007-7150
Tifenn DesroziersInserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Jean-Christophe DubusPediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), INSERM, INRAE, AP-HM - Aix-Marseille University, Marseille, France.ORCID 0000-0003-2078-4140
Carole EgronPediatric Pulmonology Department, University Hospital, Clermont Ferrand, France.ORCID 0000-0001-5832-3572
Ralph EpaudPediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.ORCID 0000-0003-3830-1039
Michael FayonPediatric Pulmonology Department, Reference Centre for Rare Lung Diseases (RespiRare), University Hospital, Clinical Investigation Centre (CIC 1401), Bordeaux, France.
Aude ForgeronPediatric Department, Hospital Centre, Le Mans, France.
Lisa Giovannini-ChamiPediatric Pulmonology Department, University Hospital Lenval, Nice, France.
Christophe MarguetPediatric Department, University Hospital, INSERM, Dynamicure, France.
Alexandra Masson-RouchaudPediatric Pulmonology Department, University Hospital, Limoges, France.
Hortense PetatPediatric Department, University Hospital, INSERM, Dynamicure, France.
Marie-Catherine RenouxPediatric Pulmonology Department, University Hospital, Montpellier, France.ORCID 0000-0002-5758-8381
Léa RoditisPediatric Pulmonology Department, University Hospital, Toulouse, France.
Caroline ThumerellePediatric Pulmonology Department, University Hospital, Lille, France.ORCID 0000-0002-3365-2035
Clémentine VigierPediatric Pulmonology Department, University Hospital, Rennes, France.
Aurore Coulomb L'HerminéPediatric Anatomopathology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Hubert Ducou le PointePediatric Radiology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Pascale FanenGenetic Department, Henri Mondor Hospital, Créteil, France.
Camille FletcherPediatric Department, Centre Hospitalier Intercommunal de Créteil and Reference Centre for Rare Lung Diseases (RespiRare), Créteil, France.
Chiara SileoPediatric Radiology Department, AP-HP, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Laureline BertelootRadiology Department, Necker Enfants Malades Hospital, AP-HP, Université de Paris, Paris, France.
Camille LouvrierInserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Alix de BecdelièvreGenetic Department, Henri Mondor Hospital, Créteil, France.
Marie LegendreInserm UMR_S933 Childhood Genetic Diseases, Armand Trousseau Hospital, Sorbonne Université, Paris, France.
Nadia NathanPediatric Pulmonology Department, AP-HP, Reference Centre for Rare Lung Diseases (RespiRare), Armand Trousseau Hospital, Sorbonne Université, Paris, France.ORCID 0000-0001-5149-7975

Funding

The authors received no specific funding for this study.
6 · The paper itself

Abstract

backgroundATP-binding cassette transporter A3 (ABCA3) deficiency is one of the most severe causes of childhood interstitial lung diseases (chILD). This study aims to report the RespiRare ABCA3 cohort and to establish phenotype-genotype correlations.

methodsPhenotypic and genotypic data of patients under 18 years were retrospectively included (1995-2023) in the RespiRare centers. The initial presentation and evolution of the subjects was analyzed depending on their genotype.

resultsThe ABCA3 cohort comprised 36 children (30 families), including 5.5%, 22%, and 72% of null/null (no protein), null/other (potential residual function) and other/other genotypes respectively. A neonatal respiratory distress syndrome was observed in 31 (86%) subjects and 27 (75%) died at a median age of 3 months. The 5-year overall survival was 25% with an overall median survival of 0.33 year (IQR 0.09-4.43). A neonatal onset (p = 0.009) and the presence of pulmonary hypertension (p = 0.037) impaired the prognosis. At the last follow-up, the survival rates were 0/2 (0%), 4/8 (50%) and 6/26 (23%) in the null/null, null/other and other/other groups respectively. Eight of the 12 subjects who survived beyond 1 year carried at least one missense variant outside the nucleotide-binding domains (NBD) (n = 9) or the hypomorphic p.(Glu292Val) variant (n = 1).

conclusionThe variable presentation and outcome of chILD due to ABCA3 pathogenic variants are linked to the underlying genotype. Neonatal onset, null variants, and variants involving the NBD are of peculiar severity.

Indexed as

ATP-Binding Cassette TransportersLung Diseases, InterstitialAdolescentChildChild, PreschoolFemaleGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMalePhenotypePrognosisRespiratory Distress Syndrome, NewbornRetrospective StudiesABCA3 protein, humanATP-Binding Cassette TransportersABCA3Childhood interstitial lung diseaseInterstitial lung diseasesurfactant

Identifiers

PMID41090249
PMCPMC12522028

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