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Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

OBJECTIVE: To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. METHODS: We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or...

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Autores principales: Hu, Xiaowen, Zhang, Guofeng, Chen, Xianmeng, Xu, Kai-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130425/
https://www.ncbi.nlm.nih.gov/pubmed/34001170
http://dx.doi.org/10.1186/s13023-021-01848-8
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author Hu, Xiaowen
Zhang, Guofeng
Chen, Xianmeng
Xu, Kai-Feng
author_facet Hu, Xiaowen
Zhang, Guofeng
Chen, Xianmeng
Xu, Kai-Feng
author_sort Hu, Xiaowen
collection PubMed
description OBJECTIVE: To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. METHODS: We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. RESULTS: Twenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%). CONCLUSIONS: Although BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.
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spelling pubmed-81304252021-05-19 Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families Hu, Xiaowen Zhang, Guofeng Chen, Xianmeng Xu, Kai-Feng Orphanet J Rare Dis Research OBJECTIVE: To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. METHODS: We identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded. RESULTS: Twenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%). CONCLUSIONS: Although BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS. BioMed Central 2021-05-17 /pmc/articles/PMC8130425/ /pubmed/34001170 http://dx.doi.org/10.1186/s13023-021-01848-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Hu, Xiaowen
Zhang, Guofeng
Chen, Xianmeng
Xu, Kai-Feng
Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families
title Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families
title_full Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families
title_fullStr Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families
title_full_unstemmed Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families
title_short Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families
title_sort birt–hogg–dubé syndrome in chinese patients: a literature review of 120 families
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8130425/
https://www.ncbi.nlm.nih.gov/pubmed/34001170
http://dx.doi.org/10.1186/s13023-021-01848-8
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