Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

被引：50

作者：

Best, Sunayna ^{[1
,2
]}

Shoemark, Amelia ^{[2
,3
]}

Rubbo, Bruna ^{[4
,5
,6
,7
]}

Patel, Mitali P. ^{[1
]}

Fassad, Mahmoud R. ^{[1
,8
]}

Dixon, Mellisa ^{[2
]}

Rogers, Andrew V. ^{[2
,9
]}

Hirst, Robert A. ^{[10
]}

Rutman, Andrew ^{[10
]}

Ollosson, Sarah ^{[2
]}

Jackson, Claire L. ^{[4
,5
,6
,7
]}

Goggin, Patricia ^{[4
,5
,6
,7
]}

Thomas, Simon ^{[11
,12
]}

Pengelly, Reuben ^{[11
]}

Cullup, Thomas ^{[13
]}

Pissaridou, Eleni ^{[14
]}

Hayward, Jane ^{[1
,13
]}

Onoufriadis, Alexandros ^{[15
]}

O'Callaghan, Christopher ^{[10
,16
]}

Loebinger, Michael R. ^{[9
]}

Wilson, Robert ^{[9
]}

Chung, Eddie M. K. ^{[14
]}

Kenia, Priti ^{[17
]}

Doughty, Victoria L. ^{[18
]}

Carvalho, Julene S. ^{[18
,19
,20
]}

Lucas, Jane S. ^{[4
,5
,6
,7
]}

Mitchison, Hannah M. ^{[1
]}

Hogg, Claire ^{[2
]}

机构：

[1] Univ Coll London UCL, Genet & Genom Med, Great Ormond St Inst Child Hlth, London, England

[2] Royal Brompton & Harefield NHS Trust, Dept Paediat Resp Med, PCD Diagnost Team, London, England

[3] Univ Dundee, Sch Med, Dundee, Scotland

[4] Univ Hosp Southampton NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England

[5] Univ Southampton, Clin & Expt Sci Acad Unit, Fac Med, Southampton, Hants, England

[6] Univ Southampton, NIHR Southampton Biomed Res Ctr, Southampton, Hants, England

[7] Univ Hosp Southampton NHS Fdn Trust, Southampton, Hants, England

[8] Alexandria Univ, Human Genet Dept, Alexandria, Egypt

[9] Royal Brompton & Harefield NHS Trust, Host Def Unit, London, England

[10] Univ Leicester, Ctr PCD Diag & Res, RKCSB, Dept Infect Immun & Inflammat, Leicester, Leics, England

[11] Univ Southampton, Human Genet & Genom Med, Fac Med, Southampton, Hants, England

[12] Salisbury Dist Hosp, Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England

[13] Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London, England

[14] UCL, Populat Policy & Practice Programme, Great Ormond St Inst Child Hlth, London, England

[15] Kings Coll London, Guys Hosp, Dept Med & Mol Genet, Div Genet & Mol Med,Sch Med, London, England

[16] UCL, Dept Resp Crit Care & Anaesthesia, Great Ormond St Inst Child Hlth, London, England

[17] Birmingham Childrens Hosp NHS Fdn Trust, Dept Resp Paediat, Birmingham, W Midlands, England

[18] Royal Brompton & Harefield NHS Trust, Brompton Ctr Fetal Cardiol, London, England

[19] St Georges Univ Hosp NHS Fdn Trust, Fetal Med Unit, London, England

[20] St Georges Univ London, Mol & Clin Sci Res Inst, London, England

来源：

THORAX | 2019年 / 74卷 / 02期

基金：

英国惠康基金;

关键词：

bronchiectasis; paediatric lung disaese; primary ciliary dyskinesia; rare lung diseases;

D O I：

10.1136/thoraxjnl-2018-212104

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype-phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects. This retrospective cohort study of 389 UK patients with PCD found 51% had abnormal situs and 25% had CHD and/or laterality defects other than situs inversus totalis. Patients with biallelic mutations in a subset of nine PCD genes had normal situs. Patients with consanguineous parents had higher odds of situs abnormalities than patients with non-consanguineous parents. Patients with abnormal situs had higher odds of CHD and/or laterality defects.

引用

页码：203 / 205

页数：3

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