Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.
Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.
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DOI：
10.1136/jmedgenet-2019-106084
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发表时间：
2020-10
影响因子：
4
通讯作者：
Mansour S
中科院分区：
文献类型：
--
作者：
Gordon K;Varney R;Keeley V;Riches K;Jeffery S;Van Zanten M;Mortimer P;Ostergaard P;Mansour S
原发性淋巴异常的表现形式多种多样，具有高度的异质性。仔细考虑表现可以导致准确的临床和/或分子诊断，这将有助于管理。最常见的表现是淋巴水肿，由周围淋巴系统功能衰竭引起的肿胀。然而，可能有内部淋巴功能障碍，如乳糜反流，或淋巴畸形，包括胸部或腹部。已经发现了许多种系或合子后基因突变的因果关系。一些是通过仔细的表型和基于圣乔治分类途径/算法的患者分类。St George’s分类算法旨在根据发病年龄、受肿胀影响的区域和相关临床特征，为淋巴水肿患者提供准确的诊断。这使得鉴定新的致病基因成为可能。此次更新使原发性淋巴疾病的分类与国际血管异常研究学会2018年血管异常分类保持一致。圣乔治算法考虑了合并血管畸形和原发性淋巴异常。它将原发性淋巴异常的类型分为淋巴畸形和原发性淋巴水肿。它进一步将原发性淋巴水肿分为综合征性、全身/内部受累的全身性淋巴发育不良、先天性淋巴水肿和迟发性淋巴水肿。经过对算法的审核和更新，发现了新基因的位置，26%的患者和41%的检测患者可以进行分子诊断。
Primary lymphatic anomalies may present in a myriad of ways and are highly heterogenous. Careful consideration of the presentation can lead to an accurate clinical and/or molecular diagnosis which will assist with management. The most common presentation is lymphoedema, swelling resulting from failure of the peripheral lymphatic system. However, there may be internal lymphatic dysfunction, for example, chylous reflux, or lymphatic malformations, including the thorax or abdomen. A number of causal germline or postzygotic gene mutations have been discovered. Some through careful phenotyping and categorisation of the patients based on the St George’s classification pathway/algorithm. The St George’s classification algorithm is aimed at providing an accurate diagnosis for patients with lymphoedema based on age of onset, areas affected by swelling and associated clinical features. This has enabled the identification of new causative genes. This update brings the classification of primary lymphatic disorders in line with the International Society for the Study of Vascular Anomalies 2018 classification for vascular anomalies. The St George’s algorithm considers combined vascular malformations and primary lymphatic anomalies. It divides the types of primary lymphatic anomalies into lymphatic malformations and primary lymphoedema. It further divides the primary lymphoedema into syndromic, generalised lymphatic dysplasia with internal/systemic involvement, congenital-onset lymphoedema and late-onset lymphoedema. An audit and update of the algorithm has revealed where new genes have been discovered and that a molecular diagnosis was possible in 26% of all patients overall and 41% of those tested.
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影响因子：
13.3
作者：
Moffatt, CJ;Franks, PJ;Mortimer, PS
通讯作者：
Mortimer, PS
影响因子：
5.3
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通讯作者：
Hennekam, Raoul C.
影响因子：
2
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通讯作者：
Hennekam, Raoul C.
影响因子：
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作者：
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通讯作者：
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影响因子：
2
作者：
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通讯作者：
Rodan, Lance H.