Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report

Birt-Hogg-Dubé (BHD) syndrome, is a rare genetic disease with heterogeneous manifestations in different populations. In this study, we reported a Chinese female BHD case and her family members with c.1579_1580insA variant in FLCN gene, who were characterized by diffused pulmonary cysts/bulla, and re...

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Autores principales: Tang, Shijie, Wei, Chuanqi, Wang, Xiaoyu, Xiao, Min, Luo, Fengming, Chen, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188955/
https://www.ncbi.nlm.nih.gov/pubmed/37206475
http://dx.doi.org/10.3389/fmed.2023.1184854
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author Tang, Shijie
Wei, Chuanqi
Wang, Xiaoyu
Xiao, Min
Luo, Fengming
Chen, Lei
author_facet Tang, Shijie
Wei, Chuanqi
Wang, Xiaoyu
Xiao, Min
Luo, Fengming
Chen, Lei
author_sort Tang, Shijie
collection PubMed
description Birt-Hogg-Dubé (BHD) syndrome, is a rare genetic disease with heterogeneous manifestations in different populations. In this study, we reported a Chinese female BHD case and her family members with c.1579_1580insA variant in FLCN gene, who were characterized by diffused pulmonary cysts/bulla, and reviewed another five familial BHD cases in China. Based on these cases, recurrent spontaneous pneumothorax is likely to be the first symptom for BHD in Chinese patients, with particularly but not limited to c.1579_1580insA variant. Therefore, attention to the early diagnosis of BHD in China should focus on pulmonary signs, but skin or kidney lesions still can not be neglected.
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spelling pubmed-101889552023-05-18 Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report Tang, Shijie Wei, Chuanqi Wang, Xiaoyu Xiao, Min Luo, Fengming Chen, Lei Front Med (Lausanne) Medicine Birt-Hogg-Dubé (BHD) syndrome, is a rare genetic disease with heterogeneous manifestations in different populations. In this study, we reported a Chinese female BHD case and her family members with c.1579_1580insA variant in FLCN gene, who were characterized by diffused pulmonary cysts/bulla, and reviewed another five familial BHD cases in China. Based on these cases, recurrent spontaneous pneumothorax is likely to be the first symptom for BHD in Chinese patients, with particularly but not limited to c.1579_1580insA variant. Therefore, attention to the early diagnosis of BHD in China should focus on pulmonary signs, but skin or kidney lesions still can not be neglected. Frontiers Media S.A. 2023-05-03 /pmc/articles/PMC10188955/ /pubmed/37206475 http://dx.doi.org/10.3389/fmed.2023.1184854 Text en Copyright © 2023 Tang, Wei, Wang, Xiao, Luo and Chen. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Tang, Shijie
Wei, Chuanqi
Wang, Xiaoyu
Xiao, Min
Luo, Fengming
Chen, Lei
Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report
title Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report
title_full Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report
title_fullStr Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report
title_full_unstemmed Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report
title_short Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report
title_sort birt-hogg-dubé syndrome with c.1579_1580insa variant in a chinese family: a case report
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188955/
https://www.ncbi.nlm.nih.gov/pubmed/37206475
http://dx.doi.org/10.3389/fmed.2023.1184854
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