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Familial Interstitial Lung Disease in Two Young Korean Sisters

Most of the interstitial lung diseases are rare, chronic, progressive and fatal disorders, especially in familial form. The etiology of the majority of interstitial lung disease is still unknown. Host susceptibility, genetic and environmental factors may influence clinical expression of each disease...

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Autores principales: Kim, Hyo-Bin, Lee, So-Yeon, Kim, Ja-Hyung, Jang, Ju-Young, Huh, Jooryung, Park, Seong-Jong, Hong, Soo-Jong
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779311/
https://www.ncbi.nlm.nih.gov/pubmed/16361824
http://dx.doi.org/10.3346/jkms.2005.20.6.1066
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author Kim, Hyo-Bin
Lee, So-Yeon
Kim, Ja-Hyung
Jang, Ju-Young
Huh, Jooryung
Park, Seong-Jong
Hong, Soo-Jong
author_facet Kim, Hyo-Bin
Lee, So-Yeon
Kim, Ja-Hyung
Jang, Ju-Young
Huh, Jooryung
Park, Seong-Jong
Hong, Soo-Jong
author_sort Kim, Hyo-Bin
collection PubMed
description Most of the interstitial lung diseases are rare, chronic, progressive and fatal disorders, especially in familial form. The etiology of the majority of interstitial lung disease is still unknown. Host susceptibility, genetic and environmental factors may influence clinical expression of each disease. With familial interstitial lung diseases, mutations of surfactant protein B and surfactant protein C or other additional genetic mechanisms (e.g. mutation of the gene for ATP-binding cassette transporter A3) could be associated. We found a 21 month-old girl with respiratory symptoms, abnormal radiographic findings and abnormal open lung biopsy findings compatible with nonspecific interstitial pneumonitis that is similar to those of her older sister died from this disease. We performed genetic studies of the patient and her parents, but we could not find any mutation in our case. High-dose intravenous methylprednisolone and oral hydroxychloroquine were administered and she is still alive without progression during 21 months of follow-up.
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spelling pubmed-27793112009-11-20 Familial Interstitial Lung Disease in Two Young Korean Sisters Kim, Hyo-Bin Lee, So-Yeon Kim, Ja-Hyung Jang, Ju-Young Huh, Jooryung Park, Seong-Jong Hong, Soo-Jong J Korean Med Sci Case Report Most of the interstitial lung diseases are rare, chronic, progressive and fatal disorders, especially in familial form. The etiology of the majority of interstitial lung disease is still unknown. Host susceptibility, genetic and environmental factors may influence clinical expression of each disease. With familial interstitial lung diseases, mutations of surfactant protein B and surfactant protein C or other additional genetic mechanisms (e.g. mutation of the gene for ATP-binding cassette transporter A3) could be associated. We found a 21 month-old girl with respiratory symptoms, abnormal radiographic findings and abnormal open lung biopsy findings compatible with nonspecific interstitial pneumonitis that is similar to those of her older sister died from this disease. We performed genetic studies of the patient and her parents, but we could not find any mutation in our case. High-dose intravenous methylprednisolone and oral hydroxychloroquine were administered and she is still alive without progression during 21 months of follow-up. The Korean Academy of Medical Sciences 2005-12 2005-12-31 /pmc/articles/PMC2779311/ /pubmed/16361824 http://dx.doi.org/10.3346/jkms.2005.20.6.1066 Text en Copyright © 2005 The Korean Academy of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Hyo-Bin
Lee, So-Yeon
Kim, Ja-Hyung
Jang, Ju-Young
Huh, Jooryung
Park, Seong-Jong
Hong, Soo-Jong
Familial Interstitial Lung Disease in Two Young Korean Sisters
title Familial Interstitial Lung Disease in Two Young Korean Sisters
title_full Familial Interstitial Lung Disease in Two Young Korean Sisters
title_fullStr Familial Interstitial Lung Disease in Two Young Korean Sisters
title_full_unstemmed Familial Interstitial Lung Disease in Two Young Korean Sisters
title_short Familial Interstitial Lung Disease in Two Young Korean Sisters
title_sort familial interstitial lung disease in two young korean sisters
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779311/
https://www.ncbi.nlm.nih.gov/pubmed/16361824
http://dx.doi.org/10.3346/jkms.2005.20.6.1066
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