与MYH9相关的疾病,血小板数量正常
Ryo Nakatani1, Kenichiro Miura1, Yoko Shirai1
1Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.
CEN case reports
|August 3, 2024
概括
与MYH9相关的疾病 (MYH9-RD) 可以在没有低血小板的情况下出现. 这一案例突出显示了模仿阿尔波特综合征的球底膜变化,强调了MYH9-RD中外围血液涂抹检查的诊断价值.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 血液学 血液学 血液学
- 遗传学 遗传学 是一个
背景情况:
- 与MYH9相关的疾病 (MYH9-RD) 通常涉及宏血缩,功能衰竭和听力损失.
- 诊断MYH9-RD通常基于特征性的临床和血液学发现.
研究的目的:
- 报告一个单一的MYH9-RD病例,血小板数量正常.
- 为了突出诊断挑战和MYH9-RD和蛋白尿症患者的发现.
主要方法:
- 一个13岁男孩的病例报告,他患有蛋白尿和血尿.
- 用光和电子显微镜进行脏活检.
- 对MYH9基因变异的遗传分析.
- 周围血液涂抹检查.
主要成果:
- 脏活检显示了质底膜异常,最初表明阿尔波特综合征.
- 基因检测发现了一个新的MYH9基因变异.
- 周围血液涂抹显示巨型血小板和白细胞包容体,证实MYH9-RD.
- 患者的血小板计数一直正常.
结论:
- 在没有血小板缺血的情况下,MYH9-RD可能会发生.
- 在MYH9-RD中,淋巴细胞底膜异常可能与阿尔波特综合征中出现的异常相似.
- 周围血液涂抹检查对于诊断MYH9-RD至关重要,即使血小板数和症状正常.
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