Lung disease caused by ABCA3 mutations

C. Kroner; T. Wittmann; S. Reu; V. Teusch; M. Klemme; D. Rauch; M. Hengst; M. Kappler; N. Cobanoglu; T. Sismanlar; A. T. Aslan; I. Campo; M. Proesmans; T. Schaible; S. Terheggen-Lagro; N. Regamey; E. Eber; J. Seidenberg; N. Schwerk; C. Aslanidis; P. Lohse; F. Brasch; R. Zarbock; M. Griese

doi:10.1136/thoraxjnl-2016-208649 [doi]

Lung disease caused by ABCA3 mutations

C. Kroner, T. Wittmann, S. Reu, V. Teusch, M. Klemme, D. Rauch, M. Hengst, M. Kappler, N. Cobanoglu, T. Sismanlar, A. T. Aslan, I. Campo, M. Proesmans, T. Schaible, S. Terheggen-Lagro, N. Regamey, E. Eber, J. Seidenberg, N. Schwerk, C. AslanidisP. Lohse, F. Brasch, R. Zarbock, M. Griese

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

BACKGROUND: Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. METHODS: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. RESULTS: Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects. CONCLUSIONS: Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was

Original language	English
Pages (from-to)	213-220
Number of pages	8
Journal	Thorax
Volume	72
Issue number	3
DOIs	https://doi.org/10.1136/thoraxjnl-2016-208649 [doi]
Publication status	Published - Mar 1 2017

Keywords

ATP-Binding Cassette Transporters/genetics
Adolescent
Adult
Biopsy
Bronchoalveolar Lavage Fluid/chemistry
Child
Child, Preschool
Consanguinity
Diagnostic Imaging
Female
Genotype
Humans
Immunohistochemistry
Infant
Infant, Newborn
Lung Diseases, Interstitial/genetics/mortality
Male
Microscopy, Electron
Mutation
Phenotype
Retrospective Studies
Survival Analysis
ABCA3
Paediatric interstitial lung disease
Surfactant protein

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Kroner, C., Wittmann, T., Reu, S., Teusch, V., Klemme, M., Rauch, D., Hengst, M., Kappler, M., Cobanoglu, N., Sismanlar, T., Aslan, A. T., Campo, I., Proesmans, M., Schaible, T., Terheggen-Lagro, S., Regamey, N., Eber, E., Seidenberg, J., Schwerk, N., ... Griese, M. (2017). Lung disease caused by ABCA3 mutations. Thorax, 72(3), 213-220. https://doi.org/10.1136/thoraxjnl-2016-208649 [doi]

Lung disease caused by ABCA3 mutations. / Kroner, C.; Wittmann, T.; Reu, S.; Teusch, V.; Klemme, M.; Rauch, D.; Hengst, M.; Kappler, M.; Cobanoglu, N.; Sismanlar, T.; Aslan, A. T.; Campo, I.; Proesmans, M.; Schaible, T.; Terheggen-Lagro, S.; Regamey, N.; Eber, E.; Seidenberg, J.; Schwerk, N.; Aslanidis, C.; Lohse, P.; Brasch, F.; Zarbock, R.; Griese, M.

In: Thorax, Vol. 72, No. 3, 01.03.2017, p. 213-220.

Research output: Contribution to journal › Article › peer-review

Kroner, C, Wittmann, T, Reu, S, Teusch, V, Klemme, M, Rauch, D, Hengst, M, Kappler, M, Cobanoglu, N, Sismanlar, T, Aslan, AT, Campo, I, Proesmans, M, Schaible, T, Terheggen-Lagro, S, Regamey, N, Eber, E, Seidenberg, J, Schwerk, N, Aslanidis, C, Lohse, P, Brasch, F, Zarbock, R & Griese, M 2017, 'Lung disease caused by ABCA3 mutations', Thorax, vol. 72, no. 3, pp. 213-220. https://doi.org/10.1136/thoraxjnl-2016-208649 [doi]

Kroner, C. ; Wittmann, T. ; Reu, S. ; Teusch, V. ; Klemme, M. ; Rauch, D. ; Hengst, M. ; Kappler, M. ; Cobanoglu, N. ; Sismanlar, T. ; Aslan, A. T. ; Campo, I. ; Proesmans, M. ; Schaible, T. ; Terheggen-Lagro, S. ; Regamey, N. ; Eber, E. ; Seidenberg, J. ; Schwerk, N. ; Aslanidis, C. ; Lohse, P. ; Brasch, F. ; Zarbock, R. ; Griese, M. / Lung disease caused by ABCA3 mutations. In: Thorax. 2017 ; Vol. 72, No. 3. pp. 213-220.

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abstract = "BACKGROUND: Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. METHODS: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. RESULTS: Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects. CONCLUSIONS: Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was ",

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author = "C. Kroner and T. Wittmann and S. Reu and V. Teusch and M. Klemme and D. Rauch and M. Hengst and M. Kappler and N. Cobanoglu and T. Sismanlar and Aslan, {A. T.} and I. Campo and M. Proesmans and T. Schaible and S. Terheggen-Lagro and N. Regamey and E. Eber and J. Seidenberg and N. Schwerk and C. Aslanidis and P. Lohse and F. Brasch and R. Zarbock and M. Griese",

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T1 - Lung disease caused by ABCA3 mutations

AU - Kroner, C.

AU - Wittmann, T.

AU - Reu, S.

AU - Teusch, V.

AU - Klemme, M.

AU - Rauch, D.

AU - Hengst, M.

AU - Kappler, M.

AU - Cobanoglu, N.

AU - Sismanlar, T.

AU - Aslan, A. T.

AU - Campo, I.

AU - Proesmans, M.

AU - Schaible, T.

AU - Terheggen-Lagro, S.

AU - Regamey, N.

AU - Eber, E.

AU - Seidenberg, J.

AU - Schwerk, N.

AU - Aslanidis, C.

AU - Lohse, P.

AU - Brasch, F.

AU - Zarbock, R.

AU - Griese, M.

N1 - LR: 20180212; CI: Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.; JID: 0417353; 0 (ABCA3 protein, human); 0 (ATP-Binding Cassette Transporters); OTO: NOTNLM; 2016/03/29 00:00 [received]; 2016/06/07 00:00 [revised]; 2016/07/12 00:00 [accepted]; 2016/08/16 06:00 [pubmed]; 2017/06/15 06:00 [medline]; 2016/08/13 06:00 [entrez]; ppublish

PY - 2017/3/1

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N2 - BACKGROUND: Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. METHODS: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. RESULTS: Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects. CONCLUSIONS: Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was

AB - BACKGROUND: Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. METHODS: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. RESULTS: Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects. CONCLUSIONS: Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was

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KW - Biopsy

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KW - Child

KW - Child, Preschool

KW - Consanguinity

KW - Diagnostic Imaging

KW - Female

KW - Genotype

KW - Humans

KW - Immunohistochemistry

KW - Infant

KW - Infant, Newborn

KW - Lung Diseases, Interstitial/genetics/mortality

KW - Male

KW - Microscopy, Electron

KW - Mutation

KW - Phenotype

KW - Retrospective Studies

KW - Survival Analysis

KW - ABCA3

KW - Paediatric interstitial lung disease

KW - Surfactant protein

U2 - 10.1136/thoraxjnl-2016-208649 [doi]

DO - 10.1136/thoraxjnl-2016-208649 [doi]

M3 - Article

VL - 72

SP - 213

EP - 220

JO - Thorax

JF - Thorax

SN - 0040-6376

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ER -