Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria
<p>Homocystinuria (HCU) is a rare autosomal recessive inherited disorder usually diagnosed in childhood. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. The accumulation of homocysteine leads to abnormalities in the ocular, skeletal, cardiovascula...
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| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , |
| منشور في: |
2023
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| _version_ | 1864513528453398528 |
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| author | Aasir M. Suliman (14150217) |
| author2 | Mohamed A. Alamin (17871587) Maha M. Hamza (17871590) |
| author2_role | author author |
| author_facet | Aasir M. Suliman (14150217) Mohamed A. Alamin (17871587) Maha M. Hamza (17871590) |
| author_role | author |
| dc.creator.none.fl_str_mv | Aasir M. Suliman (14150217) Mohamed A. Alamin (17871587) Maha M. Hamza (17871590) |
| dc.date.none.fl_str_mv | 2023-01-01T00:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1016/j.rmcr.2023.101808 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Tracheobronchomegaly_Mounier-Kuhn_syndrome_and_Bronchiectasis_as_rare_manifestations_of_Homocystinuria/25109444 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Cardiovascular medicine and haematology Homocystinuria Bronchiectasis Tracheobronchomegaly Mounier-Kuhn syndrome Fibrillin degeneration |
| dc.title.none.fl_str_mv | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p>Homocystinuria (HCU) is a rare autosomal recessive inherited disorder usually diagnosed in childhood. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. The accumulation of homocysteine leads to abnormalities in the ocular, skeletal, cardiovascular, and central nervous systems. HCU shares several clinical features with Marfan syndrome; however, respiratory system involvement in HCU is uncommon and rarely reported. Bronchiectasis has been previously reported in a few cases of HCU, and it was attributed mainly to fibrillin deficiency. This case describes a young girl diagnosed with classical HCU since childhood who presented with a chronic productive cough and was initially misdiagnosed as bronchial Asthma. However, upon further evaluation, she was eventually diagnosed with tracheobronchomegaly (TBM), or Mounier-Kuhn Syndrome, and bronchiectasis based on the computed tomography (CT) scan of chest findings. To our knowledge, this is the first reported case of TBM and bronchiectasis in HCU. We believe that fibrillin degeneration may be the key to understanding this unusual association in HCU.</p><h2>Other Information</h2> <p> Published in: Respiratory Medicine Case Reports<br> License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.rmcr.2023.101808" target="_blank">https://dx.doi.org/10.1016/j.rmcr.2023.101808</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_693c64d1df3d24d84b34424f587f66a6 |
| identifier_str_mv | 10.1016/j.rmcr.2023.101808 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25109444 |
| publishDate | 2023 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of HomocystinuriaAasir M. Suliman (14150217)Mohamed A. Alamin (17871587)Maha M. Hamza (17871590)Biomedical and clinical sciencesCardiovascular medicine and haematologyHomocystinuriaBronchiectasisTracheobronchomegalyMounier-Kuhn syndromeFibrillin degeneration<p>Homocystinuria (HCU) is a rare autosomal recessive inherited disorder usually diagnosed in childhood. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. The accumulation of homocysteine leads to abnormalities in the ocular, skeletal, cardiovascular, and central nervous systems. HCU shares several clinical features with Marfan syndrome; however, respiratory system involvement in HCU is uncommon and rarely reported. Bronchiectasis has been previously reported in a few cases of HCU, and it was attributed mainly to fibrillin deficiency. This case describes a young girl diagnosed with classical HCU since childhood who presented with a chronic productive cough and was initially misdiagnosed as bronchial Asthma. However, upon further evaluation, she was eventually diagnosed with tracheobronchomegaly (TBM), or Mounier-Kuhn Syndrome, and bronchiectasis based on the computed tomography (CT) scan of chest findings. To our knowledge, this is the first reported case of TBM and bronchiectasis in HCU. We believe that fibrillin degeneration may be the key to understanding this unusual association in HCU.</p><h2>Other Information</h2> <p> Published in: Respiratory Medicine Case Reports<br> License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1016/j.rmcr.2023.101808" target="_blank">https://dx.doi.org/10.1016/j.rmcr.2023.101808</a></p>2023-01-01T00:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1016/j.rmcr.2023.101808https://figshare.com/articles/journal_contribution/Tracheobronchomegaly_Mounier-Kuhn_syndrome_and_Bronchiectasis_as_rare_manifestations_of_Homocystinuria/25109444CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/251094442023-01-01T00:00:00Z |
| spellingShingle | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria Aasir M. Suliman (14150217) Biomedical and clinical sciences Cardiovascular medicine and haematology Homocystinuria Bronchiectasis Tracheobronchomegaly Mounier-Kuhn syndrome Fibrillin degeneration |
| status_str | publishedVersion |
| title | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria |
| title_full | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria |
| title_fullStr | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria |
| title_full_unstemmed | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria |
| title_short | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria |
| title_sort | Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria |
| topic | Biomedical and clinical sciences Cardiovascular medicine and haematology Homocystinuria Bronchiectasis Tracheobronchomegaly Mounier-Kuhn syndrome Fibrillin degeneration |