丹吉尔病

文献信息

中文摘要

目的： 我们描述了两例丹吉尔病（TD）患者，并对其临床特征、遗传学、诊断和管理进行了叙述性综述。我们检索了PubMed和Google Scholar，以识别关于TD的英文出版物，并对相关文章进行了叙述性综述。

最新发现： 患者1因ABCA1复合杂合变异（一个致病性变异（c.1759 C > T, p.Arg587Trp）和一个意义不明确的变异（VUS）（c.1733 C > G, p.Pro578Arg））被诊断为TD，当时因扁桃体切除术标本的组织病理学发现提示TD而接受评估。患者2因ABCA1纯合致病性变异（c.1769G > T p. Trp590Leu）被发现患有TD，当时因偶然检测到低高密度脂蛋白（HDL-C）而接受评估。TD以HDL-C缺乏为特征，影响反向胆固醇转运，导致细胞内胆固醇在各种组织中积累，产生特征性的临床表现。TD没有明确的治疗方法。据我们所知，患者1中注意到的VUS可能为致病性。本报告将有助于变异重新分类。

英文摘要

PURPOSE OF REVIEW: We describe two patients with Tangier disease (TD) and provide a narrative review of its clinical features, genetics, diagnosis, and management. A literature search of PubMed and Google Scholar was performed to identify English-language publications on TD, and relevant articles were reviewed narratively.
RECENT FINDINGS: Patient # 1 was diagnosed with TD due to compound heterozygous variant in ABCA1 (one pathogenic variant (c.1759 C > T, p.Arg587Trp) and one variant of uncertain significance (VUS) (c.1733 C > G, p.Pro578Arg)) when evaluated for histopathological findings of tonsillectomy specimen suggestive of TD. Patient # 2 was found to have TD due to homozygous pathogenic variant in ABCA1 (c.1769G > T p. Trp590Leu) when evaluated for incidental detection of low high density lipoprotein (HDL-C). TD, characterized by HDL-C deficiency affects reverse cholesterol transport causing intracellular cholesterol accumulation in various tissues producing characteristic clinical presentation. There is no definite treatment for TD. To the best of our knowledge the VUS noted in patient # 1 is likely pathogenic. This report will aid a variant reclassification.