2017
DOI: 10.21037/jtd.2017.06.69
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Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax

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Cited by 11 publications
(10 citation statements)
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“…In the affected family members, there were similar numbers of men and women, and the median age of onset of pneumothorax was 42.5 years, which was consistent with the results from two recent studies of the large families with BHD syndrome. Skolnik et al [21] reported that the mean age at diagnosis was 42 years, and Xing et al [9] suggested that the median age at initial onset was 41.5 years from another large Chinese family with BHD syndrome. Smoking history is not the risk factor for the disease, which was also indicated in this family.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…In the affected family members, there were similar numbers of men and women, and the median age of onset of pneumothorax was 42.5 years, which was consistent with the results from two recent studies of the large families with BHD syndrome. Skolnik et al [21] reported that the mean age at diagnosis was 42 years, and Xing et al [9] suggested that the median age at initial onset was 41.5 years from another large Chinese family with BHD syndrome. Smoking history is not the risk factor for the disease, which was also indicated in this family.…”
Section: Discussionmentioning
confidence: 99%
“…[3] BHD syndrome is the most common genetic cause of familial pneumothorax, the accumulating familial cases have been confirmed to be associated with BHD syndrome. [49]…”
Section: Introductionmentioning
confidence: 99%
“…Spontaneous pneumothorax shared between BHDS and PSP [24][25][26][27] is often the first presenting manifestation 28 and may be the only one of BHDS, [29][30][31] whereas, the skin findings generally appear in the fourth decade of FLCN mutant carriers and become progressively more noticeable with age. [32][33][34] The renal phenotype of BHDS is also a late finding when compared with pulmonary cysts/pneumothorax.…”
Section: Discussionmentioning
confidence: 99%
“…This novel variant is predicted to cause premature truncation of the FLCN protein, leading to functional haploinsufficiency of FLCN. Loss of function of this protein can cause alveolar enlargement and cysts formation, consequently leading to pneumothorax (Xing et al, 2017).…”
Section: Discussionmentioning
confidence: 99%