Genetic counselling in a national referral centre for pulmonary hypertension
作者: Barbara GirerdDavid MontaniXavier JaïsMélanie EyriesAzzedine YaiciBenjamin SztrymfLaurent SavaleFlorence ParentFlorence CouletLaurent GodinasEdmund M. LauYuichi TamuraOlivier SitbonFlorent SoubrierGérald SimonneauMarc Humbert
作者单位: 1Université Paris Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France
2AP-HP, Centre de Référence de l'Hypertension Pulmonaire Sévère, Département Hospitalo-Universitaire (DHU) Thorax Innovation (TORINO), Service de Pneumologie, Hôpital de Bicêtre, Le Kremlin Bicêtre, France
3UMR_S999, Université Paris-Sud, INSERM, Laboratoire d'Excellence (LabEx) en Recherche sur le Médicament et l'Innovation Thérapeutique (LERMIT), Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France
4UMR_S956, Université Pierre et Marie Curie-Paris 6, INSERM, Laboratoire d'Oncogénétique et Angiogénétique Moléculaire, Groupe Hospitalier Pitié-Salpétrière, Paris, France
5Sydney Medical School, University of Sydney, Camperdown, Australia
6Both authors contributed equally to this work
刊名: European Respiratory Journal, 2016, Vol.47 (2), pp.541-552
来源数据库: European Respiratory Society
DOI: 10.1183/13993003.00717-2015
原始语种摘要: Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.(#br)Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.(#br)Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2 , nine in ACVRL1 ( ALK1 ) and one in ENG ) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2 , three in ACVRL1 ( ALK1 ) and two in KCNK3 ). Bi-allelic mutations in EIF2AK4 were identified in all patients with a family history of PVOD (n=19) and in seven patients (8.6%) presenting as sporadic PVOD....
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关键词翻译
关键词翻译
  • hypertension 高血压
  • genetic 遗传的
  • counselling 咨询
  • pulmonary 肺的
  • screening 筛分
  • asymptomatic 无症状的
  • family 
  • mutation 变种
  • sporadic 零星的
  • allowed 容许