Yoshua Selvadurai, Emily R Le Fevre, Jonathan Mervis, Dominic A Fitzgerald
{"title":"Hereditary haemorrhagic telangiectasia: A primer for the paediatrician.","authors":"Yoshua Selvadurai, Emily R Le Fevre, Jonathan Mervis, Dominic A Fitzgerald","doi":"10.1016/j.prrv.2024.07.003","DOIUrl":null,"url":null,"abstract":"<p><p>Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by small telangiectasias and larger multisystem arteriovenous malformations (AVMs). Common sites of AVMs include in the nose, lungs, brain and liver. These lesions are prone to rupture, leading to complications including recurrent epistaxis and significant haemorrhage. Pulmonary hypertension (PH) can also occur. This review presents an update on the genetics, clinical manifestations, management options, and screening recommendations for children with HHT.</p>","PeriodicalId":19658,"journal":{"name":"Paediatric Respiratory Reviews","volume":null,"pages":null},"PeriodicalIF":4.7000,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Paediatric Respiratory Reviews","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.prrv.2024.07.003","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by small telangiectasias and larger multisystem arteriovenous malformations (AVMs). Common sites of AVMs include in the nose, lungs, brain and liver. These lesions are prone to rupture, leading to complications including recurrent epistaxis and significant haemorrhage. Pulmonary hypertension (PH) can also occur. This review presents an update on the genetics, clinical manifestations, management options, and screening recommendations for children with HHT.
期刊介绍：
Paediatric Respiratory Reviews offers authors the opportunity to submit their own editorials, educational reviews and short communications on topics relevant to paediatric respiratory medicine. These peer reviewed contributions will complement the commissioned reviews which will continue to form an integral part of the journal.
Subjects covered include:
• Epidemiology
• Immunology and cell biology
• Physiology
• Occupational disorders
• The role of allergens and pollutants
A particular emphasis is given to the recommendation of "best practice" for primary care physicians and paediatricians.
Paediatric Respiratory Reviews is aimed at general paediatricians but it should also be read by specialist paediatric physicians and nurses, respiratory physicians and general practitioners.
It is a journal for those who are busy and do not have time to read systematically through literature, but who need to stay up to date in the field of paediatric respiratory and sleep medicine.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
