淋巴畸形重访:遗传学、临床和未来方向。

IF 3.2 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Jian Fransén, Sofia Frisk, Nader Ghaffarpour
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引用次数: 0

摘要

临床管理淋巴畸形提出了挑战,由于他们的罕见,多变的表现,和潜在的复发。传播最新的知识在淋巴畸形是需要精简转诊途径,并可能改善患者的结果。本文就淋巴畸形的病因、诊断和治疗的最新进展作一综述。来自欧洲罕见多系统血管疾病参考网络的多学科建议,血管异常工作组为本综述奠定了基础。根据作者的喜好进行了文献检索,纳入了最新的研究。了解淋巴畸形的病因是很重要的,因为新的遗传见解可以决定管理策略。诊断技术的进步可以更好地区分畸形类型和解剖性浸润的成像,治疗方案不同,更常见的是多模式。需要对更大的研究人群进行进一步的系统研究,如前瞻性试验和荟萃分析,以改善循证实践。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Lymphatic malformations revisited: genetics, clinics and future directions.

The clinical management of lymphatic malformations presents challenges due to their rarity, variable presentation, and the potential for recurrence. Dissemination of the latest knowledge in lymphatic malformations is needed to streamline referral pathways and possibly improve patient outcomes. This paper provides a narrative review of the latest developments in aetiopathogenesis, diagnosis and management of lymphatic malformations. Multidisciplinary recommendations from the European Reference Network on Rare Multisystemic Vascular Diseases, Vascular Anomalies working group sets the basis for this review. A literature search was conducted to include the latest research based on authors' preferences. Understanding the aetiopathogenesis of lymphatic malformations is important, as new genetic insights can dictate management strategies. Advancements in diagnostics allow for better differentiation between malformation types and imaging of anatomical infiltrations, where treatment options differ and are more commonly multimodal. Further systematic studies are needed on larger study populations, such as prospective trials and meta-analyses, to improve evidence-based practice.

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来源期刊
Presse Medicale
Presse Medicale 医学-医学:内科
自引率
3.70%
发文量
40
审稿时长
43 days
期刊介绍: Seule revue médicale "généraliste" de haut niveau, La Presse Médicale est l''équivalent francophone des grandes revues anglosaxonnes de publication et de formation continue. A raison d''un numéro par mois, La Presse Médicale vous offre une double approche éditoriale : - des publications originales (articles originaux, revues systématiques, cas cliniques) soumises à double expertise, portant sur les avancées médicales les plus récentes ; - une partie orientée vers la FMC, vous propose une mise à jour permanente et de haut niveau de vos connaissances, sous forme de dossiers thématiques et de mises au point dans les principales spécialités médicales, pour vous aider à optimiser votre formation.
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