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更新于：2025-01-23

Surfactant Metabolism Dysfunction, Pulmonary, 3

3型肺部表面活性物质代谢功能障

更新于：2025-01-23

基本信息

别名

INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY、Interstitial Lung Disease Due To ABCA3 Deficiency、Interstitial lung disease due to ABCA3 (ATP-binding cassette subfamily A member 3) deficiency

+ [12]

简介

An autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants.

关联

项与 3型肺部表面活性物质代谢功能障相关的药物

AVG-003

靶点-

作用机制-

在研机构

原研机构

在研适应症

非在研适应症

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 3型肺部表面活性物质代谢功能障相关的临床结果

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100 项与 3型肺部表面活性物质代谢功能障相关的转化医学

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0 项与 3型肺部表面活性物质代谢功能障相关的专利（医药）

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项与 3型肺部表面活性物质代谢功能障相关的文献（医药）

2024-04-01·Respirology

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Article

作者: Morisse-Pradier, Hélène ; Amselem, Serge ; Dominique, Stéphane ; Legendre, Marie ; Blanchard, Elodie ; Borie, Raphaël ; Brillet, Pierre-Yves ; Manali, Effrosyni D ; Hirschi, Sandrine ; Cottin, Vincent ; Justet, Aurélien ; Diesler, Rémi ; Bironneau, Vanessa ; Si-Mohamed, Salim ; Reynaud-Gaubert, Martine ; Gagnadoux, Frédéric ; Nunes, Hilario ; Papiris, Spyros A ; Lorillon, Gwenaël ; Traclet, Julie ; Macey, Julie ; Wemeau, Lidwine ; Nathan, Nadia ; Marchand-Adam, Sylvain ; Traore, Ibrahim ; Bourdin, Arnaud ; Crestani, Bruno

AbstractBackground and ObjectiveVariants in surfactant genes SFTPC or ABCA3 are responsible for interstitial lung disease (ILD) in children and adults, with few studies in adults.MethodsWe conducted a multicentre retrospective study of all consecutive adult patients diagnosed with ILD associated with variants in SFTPC or ABCA3 in the French rare pulmonary diseases network, OrphaLung. Variants and chest computed tomography (CT) features were centrally reviewed.ResultsWe included 36 patients (median age: 34 years, 20 males), 22 in the SFTPC group and 14 in the ABCA3 group. Clinical characteristics were similar between groups. Baseline median FVC was 59% ([52–72]) and DLco was 44% ([35–50]). An unclassifiable pattern of fibrosing ILD was the most frequent on chest CT, found in 85% of patients, however with a distinct phenotype with ground‐glass opacities and/or cysts. Nonspecific interstitial pneumonia and usual interstitial pneumonia were the most common histological patterns in the ABCA3 group and in the SFTPC group, respectively. Annually, FVC and DLCO declined by 1.87% and 2.43% in the SFTPC group, respectively, and by 0.72% and 0.95% in the ABCA3 group, respectively (FVC, p = 0.014 and DLCO, p = 0.004 for comparison between groups). Median time to death or lung transplantation was 10 years in the SFTPC group and was not reached at the end of follow‐up in the ABCA3 group.ConclusionSFTPC and ABCA3‐associated ILD present with a distinct phenotype and prognosis. A radiologic pattern of fibrosing ILD with ground‐glass opacities and/or cysts is frequently found in these rare conditions.

2024-03-29·Medicine

ABCA3 mutation-induced congenital pulmonary surfactant deficiency: A case report

Article

作者: Lei, Chunxia ; Wan, Chunhui ; Liu, Caixia

Introduction:Congenital surfactant deficiency, often caused by mutations in genes involved in surfactant biosynthesis such as ABCA3, presents a significant challenge in neonatal care due to its severe respiratory manifestations. This study aims to analyze the clinical data of a newborn male diagnosed with pulmonary surfactant metabolism dysfunction type 3 resulting from ABCA3 gene mutations to provide insights into the management of this condition.Patient concerns:A newly born male child aged 1 day and 3 hours was referred to our department due to poor crying and shortness of breath.Diagnosis:Primary diagnoses by the duty physicians were: neonatal pneumonia, neonatal respiratory failure, persistent neonatal pulmonary hypertension, birth asphyxia, myocardial damage, and arteriovenous catheterization. Genetic test revealed a compound heterozygous variant in the ABCA3 gene. One allele may be exon variant c.4561C>T, the second allele may be intron variant c.1896 + 2_1896 + 17del. The associated disease included pulmonary surfactant metabolism dysfunction type 3.Interventions:He was initially treated with an antiinfective therapeutic regimen.Outcomes:The family was informed of this condition and signed off, and the child died.Conclusion:Hereditary pulmonary surfactant deficiency is a rare and untreatable disease. The case highlights the challenges in managing congenital surfactant deficiencies and emphasizes the need for heightened awareness of this rare cause of infant respiratory failure.

2023-06-01·Thorax

ABCA3-related interstitial lung disease beyond infancy

Article

作者: Gothe, Florian ; Gesenhues, Florian ; Campo, Ilaria ; Wetzke, Martin ; Krüger-Stollfuß, Ingrid ; Lange, Joanna ; Ley-Zaporozhan, Julia ; Becker, Sebastian ; Seidl, Elias ; Ayse, Kilinc ; Aslan, Ayse ; Sattler, Franziska ; Sismanlar, Tugba ; Kappler, Matthias ; Plattner, Erika ; Reu-Hofer, Simone ; Griese, Matthias ; Torrent-Vernetta, Alba ; Knoflach, Katrin ; Kroener, Carolin ; Moreno-Galdó, Antonio ; Manali, Effrosyni D ; Naehrlich, Lutz ; Krenke, Katarzyna ; Koerner-Rettberg, Cordula ; Schwerk, Nicolaus ; Michel, Katarzyna ; Pawlita, Ingo ; Yang, Xiaohua ; Regamey, Nicolas ; Proesmans, Marijke ; Rumman, Nisreen ; Dinkel, Julien ; Carlens, Julia ; Stehling, Florian ; Kammer, Birgit ; Mayell, Sarah ; Papiris, Spyridon A ; Li, Yang ; Forstner, Maria Elisabeth

BackgroundThe majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succumb to disease if not lung transplanted. This register-based cohort study reviews patients with ABCA3 lung disease who survived beyond the age of 1 year.MethodOver a 21-year period, patients diagnosed as chILD due to ABCA3 deficiency were identified from the Kids Lung Register database. 44 patients survived beyond the first year of life and their long-term clinical course, oxygen supplementation and pulmonary function were reviewed. Chest CT and histopathology were scored blindly.ResultsAt the end of the observation period, median age was 6.3 years (IQR: 2.8–11.7) and 36/44 (82%) were still alive without transplantation. Patients who had never received supplemental oxygen therapy survived longer than those persistently required oxygen supplementation (9.7 (95% CI 6.7 to 27.7) vs 3.0 years (95% CI 1.5 to 5.0), p=0.0126). Interstitial lung disease was clearly progressive over time based on lung function (forced vital capacity % predicted absolute loss −1.1% /year) and on chest CT (increasing cystic lesions in those with repetitive imaging). Lung histology pattern were variable (chronic pneumonitis of infancy, non-specific interstitial pneumonia, and desquamative interstitial pneumonia). In 37/44 subjects, theABCA3sequence variants were missense variants, small insertions or deletions with in-silico tools predicting some residual ABCA3 transporter function.ConclusionThe natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course.

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