D. Fomina, S. Serdotetskova, E. Bobrikova, Julia G. Alekseeva, A. Roppelt, M. Lysenko
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引用次数: 0
摘要
遗传性血管性水肿是一种罕见的由遗传决定的疾病,其特征是不同部位的复发性血管性水肿,对全身糖皮质激素、抗组胺药无反应。在大多数遗传性血管性水肿病例中,由于SERPING1基因突变,c1抑制剂水平或其功能活性降低。近年来,遗传诊断资源的扩展显著改变了我们对遗传性血管性水肿发病机制的理解,而不存在c1抑制剂缺乏和以前未知的突变。目前已确定六种不同基因的突变可导致遗传性血管性水肿:因子XII (F12)、纤溶酶原(PLG)、血管生成素1 (ANGPT1)、激肽原1 (KNG1)、肌红素(MYOF)和硫酸肝素(HS)-氨基葡萄糖3- o -硫转移酶6 (HS3ST6)。此外,最后3种是指一个单独的表型-内源性内皮功能障碍。2020年发表了一系列意大利家庭MYOF基因突变患者的临床病例。这种类型是非常罕见的-只有3个女性亲属来自同一个家庭被描述。这篇文章提出了实际的国际文献回顾,并描述了第一个临床病例的男性患者突变在肌钙蛋白基因证实的基因检测。
Myoferline gene mutation сan be associated with recurrent angioedema
Hereditary angioedema is a rare genetically determined disease characterized by the recurrent angioedema of various localizations with no response to systemic glucocorticosteroids, antihistamines.
In the majority of hereditary angioedema cases C1-inhibitor level or its functional activity is decreased due to a mutation in the SERPING1 gene. In recent years, the expansion of genetic diagnostic recourses significantly changed our understanding of the pathogenesis of hereditary angioedema without of C1-inhibitor deficiency with previously unknown mutations. Currently mutations in six different genes have been identified as causing hereditary angioedema: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen 1 (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). Moreover, the last 3 of them are referred to a separate phenotype ― intrinsic endothelial dysfunction.
In 2020 a series of clinical cases in patients with MYOF gene mutation in an Italian family were published. This type is exceptionally rare ― only 3 female relatives from the same family are described.
This article presents a review of the actual international literature and describes the first clinical case of a male patient with a mutation in the myoferlin gene confirmed by genetic testing.