MYH9相关综合征家系的临床表型和遗传学分析

目的 分析1组MYH9相关综合征家系的临床表现及遗传学特征.方法我们随访到1组4代51人的MYH9相关综合征家系,对目前存活的46人进行了临床表型和遗传学的初步分析.结果家系内有MYH9相关综合征患者17人,实验室检测都具有典型的"血小板减少、巨大血小板和粒细胞包涵体"三联症;临床表现具高度复杂性.并伴有严重的白血病、青光眼、转氨酶升高、血脂升高、哮喘、鼻炎及白内障等多种疾病,除此之外,本家系大部分感染者都有鼻炎和哮喘过敏史,而且当上述症状发作时,患者身上的出血点或紫癜会明显加重;在遗传方式上属于常染色体显性遗传.从细胞遗传学水平对家系中成员进行染色体检查,未发现核型异常.结论该MYH9相关综合征家系属常染色体显性遗传,染色体检查未发现核型异常;家系中的感染者不仅具有巨大血小板、血小板减少及中性粒细胞包涵体的特性,而且还具有严重的如:肝炎、白内障、白血痛、哮喘等临床表现.

Clinical features and hereditary analysis of a family with MYH9 - related sydrome

Objective:To observe the clinical symptoms and analyze the hereditary features of a family with MYH9-related syndrome.Methods :We obtained a Chinese family with MYH9-related syndrome in 46 members of 4 generations and their clinical and hereditary features were analyzed.Results: There are 17 patients with MYH9-related syndrome in this family.The phenotype is extremely variable and complicated,and we found it was autosomal dominant disorder.Cell genetics analysis showed that the karyotype was normal.Conclusion:This family with MYH9-related syndrome belongs to autosomal dominant inherited disease with normal karyotype.The phenotypes from The affected members of this family not only have the properties of thrombocytopenia with giant platelets and neutrophilic inclusions but also accompany serious phenotypes such as heptatisis,cataract,leucocythemia and asthma etc.