Lung disease caused by<i>ABCA3</i>mutations

Kröner, Carolin; Wittmann, Thomas; Reu, Simone; Teusch, Veronika; Klemme, Mathias; Rauch, Daniela; Hengst, Meike; Kappler, Matthias; Çobanoğlu, Nazan; Şişmanlar, Tuğba; Aslan, Ayse Tana; Campo, Ilaria; Proesmans, Marijke; Schaible, T; Terheggen-Lagro, Susanne; Regamey, Nicolas; Eber, Ernst; Seidenberg, J.; Schwerk, Nicolaus; Aslanidis, Charalampos; Lohse, Peter; Brasch, Frank; Zarbock, Ralf; Griese, Matthias

doi:10.1136/thoraxjnl-2016-208649

Cited by 116 publications

(124 citation statements)

References 33 publications

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“…Mutations in ABCA3 are the most prevalent, monogenetic cause of acute and chronic lung disease in infancy (1,(7)(8)(9). In the present study, we developed a conditional model of ABCA3 deficiency, enabling analysis of the biochemistry, pulmonary function, and regeneration of the adult mouse lung after the deletion of the Abca3 gene.…”

Section: Discussionmentioning

confidence: 99%

“…ABCA3 is required for packaging and secretion of surfactant lipids and is required for lung function at birth (5,6). Autosomal recessive mutations in ABCA3 cause severe lung disease in infants and children, and they represent the most common genetic cause of respiratory failure in newborns (1,(7)(8)(9). ABCA3-related lung disease in infants is accompanied by lung injury and extensive tissue remodeling, leading to loss of alveolar structures that is generally fatal despite intensive care and ventilatory support (7,10,11).…”

Section: Introductionmentioning

confidence: 99%

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Alveolar injury and regeneration following deletion of ABCA3

Rindler¹,

Stockman²,

Filuta³

et al. 2017

JCI Insight

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Alveolar injury and regeneration following deletion of ABCA3

Rindler¹,

Stockman²,

Filuta³

et al. 2017

JCI Insight

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“…The effect of antifibrotic drugs such as pirfenidone or nintedanib is unknown. The disease does not appear to recur after pulmonary transplantation [89].…”

Section: Surfactant Protein Mutationsmentioning

confidence: 99%

“…In the case of surfactant protein mutation, steroids, azithromycine or hydroxychloroquine could be effective [89]. Hydroxychloroquine is being investigated in paediatric ILD (ClinicalTrials.gov identifier NCT02615938).…”

Section: Indication For Genetic Diagnosismentioning

confidence: 99%

Management of suspected monogenic lung fibrosis in a specialised centre

et al. 2017

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At least 10% of patients with interstitial lung disease present monogenic lung fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 25% of families have an identified mutation in genes mostly involved in telomere homeostasis, and more rarely in surfactant homeostasis.Beyond pathophysiological knowledge, detection of these mutations has practical consequence for patients. For instance, mutations involved in telomere homeostasis are associated with haematological complications after lung transplantation and may require adapted immunosuppression. Moreover, relatives may benefit from a clinical and genetic evaluation that should be specifically managed.The field of genetics of pulmonary fibrosis has made great progress in the last 10 years, raising specific problems that should be addressed by a specialised team.

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“…The results of this PubMed search illustrate this, showing that due to the presence of "interstitial lung disease" in pulmonary histiocytosis, 16 out of the 19 reports retrieved in the category "DPLD related to systemic disease processes" were linked to this entity (table 1), whereas the other entities had much lower numbers. The presence of monogenetic disease entities that primarily manifest in infancy [5][6][7][8] are a unique opportunity to develop comprehensive disease-categorisation systems, to extend the database of molecularly defined pulmonary disease entities [9] and to collaborate in all these aspects with pneumologists, radiologists, pathologists and geneticists [10] for a personalised diagnostic and therapeutic approach.…”

mentioning

confidence: 99%

Chronic interstitial lung disease in children

Griese

2018

Eur Respir Rev

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Children's interstitial lung diseases (chILD) are increasingly recognised and contain many lung developmental and genetic disorders not yet identified in adult pneumology. Worldwide, several registers have been established. The Australasian Registry Network for Orphan Lung Disease (ARNOLD) has identified problems in estimating rare disease prevalence; focusing on chILD in immunocompetent patients, a period prevalence of 1.5 cases per million children and a mortality rate of 7% were determined. The chILD-EU register highlighted the workload to be covered per patient included and provided protocols for diagnosis and initial treatment, similar to the United States chILD network. Whereas case reports may be useful for young physicians to practise writing articles, cohorts of patients can catapult progress, as demonstrated by recent studies on persistent tachypnoea of infancy, hypersensitivity pneumonitis in children and interstitial lung disease related to interferonopathies from mutations in transmembrane protein 173. Translational research has linked heterozygous mutations in the ABCA3 transporter to an increased risk of interstitial lung diseases, not only in neonates, but also in older children and adults. For surfactant dysfunction disorders in infancy and early childhood, lung transplantation was reported to be as successful as in adult patients. Mutual potentiation of paediatric and adult pneumologists is mandatory in this rapidly extending field for successful future development.

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Lung disease caused byABCA3mutations

Abstract: Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was <20%. Response to therapies needs to be ascertained in randomised controlled trials.

Cited by 116 publications

References 33 publications

Alveolar injury and regeneration following deletion of ABCA3

Alveolar injury and regeneration following deletion of ABCA3

Management of suspected monogenic lung fibrosis in a specialised centre

Chronic interstitial lung disease in children

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