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匈牙利遗传性出血性毛细血管扩张症家族的临床与基因筛查现状

Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.

作者信息

Major Tamás, Bereczky Zsuzsanna, Gindele Réka, Balogh Gábor, Rácz Benedek, Bora László, Kézsmárki Zsolt, Brúgós Boglárka, Pfliegler György

机构信息

Division of Otorhinolaryngology and Head & Neck Surgery, Kenézy Gyula Campus, University of Debrecen Medical Center, University of Debrecen, H-4031 Debrecen, Hungary.

Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary.

出版信息

J Clin Med. 2021 Aug 24;10(17):3774. doi: 10.3390/jcm10173774.

DOI:10.3390/jcm10173774
PMID:34501220
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8432115/
Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].

摘要

遗传性出血性毛细血管扩张症（HHT）是一种罕见的种系血管畸形综合征，患病率为1:5000至1:10000 [...]。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/06bffac2745f/jcm-10-03774-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/e245a1859658/jcm-10-03774-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/e7ff00dfb3c2/jcm-10-03774-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/b0a7defc128e/jcm-10-03774-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/8e844c679d45/jcm-10-03774-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/06bffac2745f/jcm-10-03774-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/e245a1859658/jcm-10-03774-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/e7ff00dfb3c2/jcm-10-03774-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/b0a7defc128e/jcm-10-03774-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/8e844c679d45/jcm-10-03774-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15b4/8432115/06bffac2745f/jcm-10-03774-g005.jpg

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Founder Effects in Hereditary Hemorrhagic Telangiectasia.遗传性出血性毛细血管扩张症中的奠基者效应
J Clin Med. 2021 Apr 14;10(8):1682. doi: 10.3390/jcm10081682.
2
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.通过下一代测序解决血管性血友病、纤维蛋白原疾病、前激肽释放酶缺乏症和遗传性出血性毛细血管扩张症中的鉴别诊断问题。
Life (Basel). 2021 Mar 5;11(3):202. doi: 10.3390/life11030202.
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A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.
遗传性出血性毛细血管扩张症：诊断与管理
J Clin Med. 2022 Aug 11;11(16):4698. doi: 10.3390/jcm11164698.
血管异常综合遗传方法入门
Front Pediatr. 2020 Oct 19;8:579591. doi: 10.3389/fped.2020.579591. eCollection 2020.
4
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.遗传性出血性毛细血管扩张症诊断与管理的第二版国际指南。
Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8.
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Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.西班牙目前的 HHT 遗传概述及其表型相关性：RiHHTa 注册中心的数据。
Orphanet J Rare Dis. 2020 Jun 5;15(1):138. doi: 10.1186/s13023-020-01422-8.
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Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2.