遗传性出血性毛细血管扩张症：儿科医生入门指南。

IF 4.7 3区医学 Q1 PEDIATRICS Paediatric Respiratory Reviews Pub Date : 2024-08-02 DOI:10.1016/j.prrv.2024.07.003

Yoshua Selvadurai, Emily R Le Fevre, Jonathan Mervis, Dominic A Fitzgerald

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引用次数: 0

摘要

遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传病，其特征是小的毛细血管扩张和大的多系统动静脉畸形（AVM）。动静脉畸形的常见部位包括鼻、肺、脑和肝。这些病变容易破裂，导致包括反复鼻衄和大出血在内的并发症。肺动脉高压（PH）也可能发生。本综述介绍了遗传学、临床表现、治疗方案和 HHT 儿童筛查建议的最新进展。

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Hereditary haemorrhagic telangiectasia: A primer for the paediatrician.

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.

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来源期刊

Paediatric Respiratory Reviews 医学-呼吸系统

CiteScore

12.50

自引率

0.00%

发文量

审稿时长

23 days

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.