Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol

Abstract We report the case of a 42‐year‐old female with a history of finger clubbing which improved during pregnancy, a history of unexplained hepatosplenomegaly, and subsequent non‐specific interstitial pneumonia with respiratory failure. Given a personal and family history of early greying of the...

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Main Authors: Daniel C. Chambers, Viviana P. Lutzky, Simon H. Apte, David Godbolt, John Feenstra, John Mackintosh
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Respirology Case Reports
Subjects:
Online Access:https://doi.org/10.1002/rcr2.607
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author Daniel C. Chambers
Viviana P. Lutzky
Simon H. Apte
David Godbolt
John Feenstra
John Mackintosh
author_facet Daniel C. Chambers
Viviana P. Lutzky
Simon H. Apte
David Godbolt
John Feenstra
John Mackintosh
author_sort Daniel C. Chambers
collection DOAJ
description Abstract We report the case of a 42‐year‐old female with a history of finger clubbing which improved during pregnancy, a history of unexplained hepatosplenomegaly, and subsequent non‐specific interstitial pneumonia with respiratory failure. Given a personal and family history of early greying of the hair, the peripheral blood monocyte telomere length was measured and was confirmed to be <1st centile, explaining the multiorgan presentation. She was treated with prednisolone, mycophenolate mofetil, and the synthetic androgen danazol with a dramatic improvement in respiratory failure and lung function. After 18 months of danazol treatment, the peripheral blood monocyte telomere length had returned to the normal range.
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spelling doaj.art-de32198dd45d4bceb2712d1a1cba2d9f2022-12-22T01:37:13ZengWileyRespirology Case Reports2051-33802020-08-0186n/an/a10.1002/rcr2.607Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazolDaniel C. Chambers0Viviana P. Lutzky1Simon H. Apte2David Godbolt3John Feenstra4John Mackintosh5Qld Lung Transplant Service The Prince Charles Hospital Brisbane QLD AustraliaQld Lung Transplant Service The Prince Charles Hospital Brisbane QLD AustraliaQld Lung Transplant Service The Prince Charles Hospital Brisbane QLD AustraliaDepartment of Pathology The Prince Charles Hospital Brisbane QLD AustraliaQld Lung Transplant Service The Prince Charles Hospital Brisbane QLD AustraliaQld Lung Transplant Service The Prince Charles Hospital Brisbane QLD AustraliaAbstract We report the case of a 42‐year‐old female with a history of finger clubbing which improved during pregnancy, a history of unexplained hepatosplenomegaly, and subsequent non‐specific interstitial pneumonia with respiratory failure. Given a personal and family history of early greying of the hair, the peripheral blood monocyte telomere length was measured and was confirmed to be <1st centile, explaining the multiorgan presentation. She was treated with prednisolone, mycophenolate mofetil, and the synthetic androgen danazol with a dramatic improvement in respiratory failure and lung function. After 18 months of danazol treatment, the peripheral blood monocyte telomere length had returned to the normal range.https://doi.org/10.1002/rcr2.607Danazolinterstitial lung diseasenon‐specific interstitial pneumoniatelomere
spellingShingle Daniel C. Chambers
Viviana P. Lutzky
Simon H. Apte
David Godbolt
John Feenstra
John Mackintosh
Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
Respirology Case Reports
Danazol
interstitial lung disease
non‐specific interstitial pneumonia
telomere
title Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
title_full Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
title_fullStr Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
title_full_unstemmed Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
title_short Successful treatment of telomeropathy‐related interstitial lung disease with immunosuppression and danazol
title_sort successful treatment of telomeropathy related interstitial lung disease with immunosuppression and danazol
topic Danazol
interstitial lung disease
non‐specific interstitial pneumonia
telomere
url https://doi.org/10.1002/rcr2.607
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AT johnfeenstra successfultreatmentoftelomeropathyrelatedinterstitiallungdiseasewithimmunosuppressionanddanazol
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