Combining clinical, radiological and genetic approaches to pneumothorax management

被引：4

作者：

Grimes, Hannah L. ^{[1
]}

Holden, Simon ^{[2
]}

Babar, Judith ^{[3
]}

Karia, Sumit ^{[3
]}

Wetscherek, Maria T. A. ^{[3
]}

Barker, Allanah ^{[3
]}

Herre, Jurgen ^{[4
]}

Knolle, Martin D. ^{[4
]}

Maher, Eamonn R. ^{[5
]}

Marciniak, Stefan John ^{[1
,4
,6
,7
]}

机构：

[1] Univ Cambridge, Med, Cambridge CB2 0XY, England

[2] Addenbrookes Hosp, Clin Genet, Cambridge, England

[3] Addenbrookes Hosp, Dept Radiol, Cambridge, England

[4] Addenbrookes Hosp, Cambridge, England

[5] Univ Cambridge, Clin Genet, Cambridge, England

[6] Univ Cambridge, Cambridge Inst Med Res CIMR, Cambridge, England

[7] Royal Papworth Hosp, Resp Med, Cambridge, England

来源：

THORAX | 2022年 / 77卷 / 02期

关键词：

pleural disease;

D O I：

10.1136/thoraxjnl-2021-217210

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.

引用

页码：196 / 198

页数：3

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