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目的:对1例MYH9-RD孕妇患者进行诊断及临床特点分析以探讨其致病机制。方法:对此患者进行详细的临床体征筛查,包括白内障、神经性耳聋、异常出血、肾损害等检查及其他并发症调查等和实验室检查;分别采用自动血细胞计数仪法和手工法计数血小板数量,应用染色体核型分析技术进行细胞学诊断,应用光学显微镜和电子显微镜观察中性粒细胞包涵体和血小板的形态特点和超微结构特点,同时临床体征和实验室评估等。结果:患者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,外周血染色体核型分析正常,患者机数血小板数明显低于镜数血小板数(P<0.01),电镜下可见清晰的巨大血小板和包涵体的超微结构。此外,正常对照者血小板数量、形态和结构均正常,而且中性粒细胞中未见包涵体。临床表型高度复杂,伴有青光眼、转氨酶升高、血脂升高、哮喘、鼻炎等多种疾病。结论:通过临床表现和实验室特点分析,该患者MYH9-RD诊断成立,且临床表型复杂多样。此外,为了正确反映巨大血小板患者的血小板数量,应使用人工计数法而不是细胞自动计数仪法来计数血小板的数量。
OBJECTIVE: To analyze the diagnosis and clinical features of one case of MYH9-RD pregnant women to explore its pathogenesis. Methods: The patients were screened for detailed clinical signs, including cataract, neurological deafness, abnormal bleeding, renal damage and other complications such as investigation and laboratory tests; respectively, using automatic hematocytometer and manual counting of platelets Quantity, the use of chromosome karyotyping technology for cytological diagnosis, the use of optical microscopy and electron microscopy neutrophil inclusions and platelet morphology and ultrastructure characteristics, clinical signs and laboratory evaluation. Results: The patients had typical thrombocytopenia, giant platelet and granulocyte inclusion body triad. The karyotype analysis of peripheral blood was normal. The number of platelet machine was significantly lower than the number of platelet count (P <0.01), and the clear Ultramicrostructure of giant platelets and inclusion bodies. In addition, the number, shape and structure of platelets in normal controls were normal, and no inclusion bodies were found in neutrophils. Highly complex clinical phenotypes, accompanied by glaucoma, elevated transaminases, elevated blood lipids, asthma, rhinitis and other diseases. Conclusion: The clinical manifestations and laboratory characteristics of the analysis, the diagnosis of MYH9-RD in this patient was established, and the clinical phenotypes are complex and diverse. In addition, to correctly reflect the number of platelets in patients with giant platelets, the number of platelets should be counted manually instead of the automated cell counting method.