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

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, th...

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Detalles Bibliográficos
Autores principales: Chambers, Daniel C., Lutzky, Viviana P., Apte, Simon H., Godbolt, David, Feenstra, John, Mackintosh, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316582/
https://www.ncbi.nlm.nih.gov/pubmed/32607243
http://dx.doi.org/10.1002/rcr2.607
Descripción
Sumario: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.