[MYH9综合征：1例携带MYH9基因新突变的病例报告]
[The MYH9 syndrome: report of a new case with a new mutation of the MYH9 gene].
作者信息
Schleinitz N, Favier R, Mazodier K, Difeo A, Ebbo M, Veit V, Berda-Haddad Y, Bernit E, Heudier P, Kaplanski G, Camoin L, Bardet V, Harle J-R
机构信息
Service de médecine interne, CHU la Conception, APHM, boulevard Baille, 13385 Marseille cedex 05, France.
出版信息
Rev Med Interne. 2006 Oct;27(10):783-6. doi: 10.1016/j.revmed.2006.07.012. Epub 2006 Aug 15.
INTRODUCTION
Familial macrothrombocytopenias are a group of rare autosomal dominant platelet disorders including many syndromes in particular the May-Hegglin anomaly. They are characterized by thrombocytopenia with giant platelets and in some cases neutrophilic inclusions in peripheral blood granulocytes. Recently these different clinical entities have been demonstrated to be linked to mutations in the same gene, MYH9.
CASE REPORT
We report in a young African woman presenting as a May-Hegglin anomaly a new mutation of the MYH9 gene. In regard of this case we present a brief review of the MYH9 syndrome.
CONCLUSION
The MYH9 syndrome includes now several clinical entities who share some common clinical and biological characteristics such as a thrombocytopenia with giant platelets, presence or absence of other manifestations including Dohle like bodies, nephritis, sensorineural hearing loss, cataract. We report a new case in which a new mutation of the MYH9 gene was evidenced.
引言
家族性大血小板减少症是一组罕见的常染色体显性血小板疾病，包括多种综合征，尤其是May-Hegglin异常。其特征为血小板减少伴巨大血小板，某些情况下外周血粒细胞中可见嗜中性粒细胞包涵体。最近已证实这些不同的临床实体与同一基因MYH9的突变有关。
病例报告
我们报告了一名表现为May-Hegglin异常的年轻非洲女性中MYH9基因的一种新突变。鉴于此病例，我们对MYH9综合征进行了简要综述。
结论
MYH9综合征目前包括几个临床实体，它们具有一些共同的临床和生物学特征，如血小板减少伴巨大血小板，存在或不存在其他表现，包括杜勒小体、肾炎、感音神经性听力损失、白内障。我们报告了一例证实存在MYH9基因新突变的新病例。
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