Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
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DOI：
10.3390/cells12050725
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发表时间：
2023-02-24
期刊：
影响因子：
6
通讯作者：
Araujo-Vilar, David
中科院分区：
文献类型：
--
作者：
Fernandez-Pombo, Antia;Diaz-Lopez, Everardo Josue;Castro, Ana I.;Sanchez-Iglesias, Sofia;Cobelo-Gomez, Silvia;Prado-Morana, Teresa;Araujo-Vilar, David
2型家族性部分脂肪营养不良（FPLD 2）是由于LMNA基因中的致病性变体引起的核纤层病性脂肪营养不良。它的稀有性意味着它并不出名。本综述的目的是探讨已发表的关于该综合征临床特征的数据，以便更好地描述FPLD 2。为此，通过检索PubMed（截至2022年12月）进行了系统综述，并筛选了检索到的文章的参考文献。共纳入113篇文章。FPLD 2的特征在于女性在青春期左右开始的脂肪损失，影响四肢和躯干，以及其在面部，颈部和腹部内脏中的积累。这种脂肪组织功能障碍导致与胰岛素抵抗相关的代谢并发症的发展，例如糖尿病、血脂异常、脂肪肝、心血管疾病和生殖障碍。然而，已经描述了很大程度的表型变异性。治疗方法是针对相关的合并症，最近的治疗方式已经探索。FPLD 2和其他FPLD亚型之间的全面比较也可以在本综述中找到。本综述旨在通过汇集该领域的主要临床研究，为增加对FPLD 2自然史的认识做出贡献。
Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known. The aim of this review was to explore the published data regarding the clinical characterisation of this syndrome in order to better describe FPLD2. For this purpose, a systematic review through a search on PubMed until December 2022 was conducted and the references of the retrieved articles were also screened. A total of 113 articles were included. FPLD2 is characterised by the loss of fat starting around puberty in women, affecting limbs and trunk, and its accumulation in the face, neck and abdominal viscera. This adipose tissue dysfunction conditions the development of metabolic complications associated with insulin resistance, such as diabetes, dyslipidaemia, fatty liver disease, cardiovascular disease, and reproductive disorders. However, a great degree of phenotypical variability has been described. Therapeutic approaches are directed towards the associated comorbidities, and recent treatment modalities have been explored. A comprehensive comparison between FPLD2 and other FPLD subtypes can also be found in the present review. This review aimed to contribute towards augmenting knowledge of the natural history of FPLD2 by bringing together the main clinical research in this field.
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脂肪营养不良综合征的诊断和管理：多社会实践指南。
DOI：
10.1210/jc.2016-2466
发表时间：
2016-12
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Brown RJ;Araujo-Vilar D;Cheung PT;Dunger D;Garg A;Jack M;Mungai L;Oral EA;Patni N;Rother KI;von Schnurbein J;Sorkina E;Stanley T;Vigouroux C;Wabitsch M;Williams R;Yorifuji T
通讯作者：
Yorifuji T
影响因子：
3.7
作者：
Araujo-Vilar, David;Fernandez-Pombo, Antia;Sanchez-Iglesias, Sofia
通讯作者：
Sanchez-Iglesias, Sofia
DOI：
10.1161/atvbaha.112.300962
发表时间：
2013-04-01
影响因子：
8.7
作者：
Auclair, Martine;Vigouroux, Corinne;Caron-Debarle, Martine
通讯作者：
Caron-Debarle, Martine
影响因子：
3.9
作者：
Araújo-Vilar D;Sánchez-Iglesias S;Castro AI;Cobelo-Gómez S;Hermida-Ameijeiras Á;Rodríguez-Carnero G;Casanueva FF;Fernández-Pombo A
通讯作者：
Fernández-Pombo A
影响因子：
2.1
作者：
Altay, Canan;Secil, Mustafa;Akinci, Baris
通讯作者：
Akinci, Baris