Cai Lixiu, Chen Shuangyan, Zhou Yu, Yu Hao, Li Ya, Bao Aiping, Zhang Jin, Lv Qin
Department of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Department of Respiratory and Critical Care Medicine, Sichuan Provincial People's Hospital, No.32, West 2nd Section, 1st Ring Road, Qingyang District, Chengdu, 610072, Sichuan Province, China.
Heliyon. 2024 Aug 13;10(18):e36203. doi: 10.1016/j.heliyon.2024.e36203. eCollection 2024 Sep 30.
This paper presents a detailed analysis of a case initially misdiagnosed as Idiopathic Thrombocytopenic Purpura (ITP), which was later correctly identified as MYH9-related disease (MYH9-RD), a rare genetic disorder characterized by thrombocytopenia, large platelets, and Döhle-like inclusion bodies in neutrophils. Using advanced slide reading technology, our team identified hallmark features of MYH9-RD in the patient's blood samples, leading to genetic testing that confirmed a spontaneous mutation in the MYH9 gene. This report highlights the diagnostic journey, emphasizing the crucial role of recognizing specific hematologic signs to accurately diagnose MYH9-RD. By comparing our findings with existing literature, we highlight the genetic underpinnings and clinical manifestations of MYH9-RD, emphasizing the necessity for heightened awareness and diagnostic precision in clinical practice to prevent similar cases of misdiagnosis. This case demonstrates the importance of integrating genetic testing into routine diagnostic protocols for unexplained thrombocytopenia, paving the way for improved patient care and treatment outcomes.
本文详细分析了一例最初被误诊为特发性血小板减少性紫癜（ITP）的病例，该病例后来被正确诊断为MYH9相关疾病（MYH9-RD），这是一种罕见的遗传性疾病，其特征为血小板减少、大血小板以及中性粒细胞中出现类似Döhle小体的包涵体。通过先进的玻片阅片技术，我们的团队在患者血液样本中识别出了MYH9-RD的标志性特征，进而进行基因检测，证实MYH9基因存在自发突变。本报告重点介绍了诊断过程，强调识别特定血液学体征对准确诊断MYH9-RD的关键作用。通过将我们的研究结果与现有文献进行比较，我们突出了MYH9-RD的遗传基础和临床表现，强调在临床实践中提高认识和诊断准确性以防止类似误诊病例的必要性。该病例证明了将基因检测纳入不明原因血小板减少症常规诊断方案的重要性，为改善患者护理和治疗结果铺平了道路。
