Shen Kefeng, Chen Ting, Xiao Min
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Ophthalmology, The Sixth Hospital of Wuhan, Affiliated Hospital of Jianghan University, Wuhan, China.
Res Pract Thromb Haemost. 2024 Aug 22;8(6):102552. doi: 10.1016/j.rpth.2024.102552. eCollection 2024 Aug.
Inherited thrombocytopenias have been considered exceedingly rare for a long time, but recent advances have facilitated diagnosis and greatly enabled the discovery of new causative genes. -related disease (RD) represents one of the most frequent forms of inherited thrombocytopenia, usually presenting with nonspecific clinical manifestations, which renders it difficult to establish an accurate diagnosis. RD is an autosomal dominant-inherited thrombocytopenia caused by deleterious variants in the gene encoding the heavy chain of nonmuscle myosin IIA. Patients with -RD usually present with thrombocytopenia and platelet macrocytosis at birth or in infancy, and most of them may develop one or more extrahematologic manifestations of progressive nephritis, sensorial hearing loss, presenile cataracts, and elevated liver enzymatic levels during childhood and adult life. Here, we have reviewed recent advances in the study of -RD, which aims to provide an updated and comprehensive summary of the current knowledge and improve our understanding of the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches of this rare disease. Importantly, our goal is to enable physicians to better understand this rare disease and highlight the critical role of genetic etiologic analysis in ensuring accurate diagnosis, clinical management, and genetic counseling while avoiding ineffective and potentially harmful therapies for -RD patients.
长期以来，遗传性血小板减少症一直被认为极为罕见，但最近的进展推动了诊断，并极大地促进了新致病基因的发现。相关疾病（RD）是遗传性血小板减少症最常见的形式之一，通常表现为非特异性临床表现，这使得准确诊断变得困难。RD是一种常染色体显性遗传性血小板减少症，由编码非肌肉肌球蛋白IIA重链的基因中的有害变异引起。患有-RD的患者通常在出生时或婴儿期出现血小板减少和血小板大细胞症，并且他们中的大多数人在儿童期和成年期可能会出现一种或多种进行性肾炎、感音神经性听力损失、早发性白内障和肝酶水平升高等血液外表现。在此，我们综述了-RD研究的最新进展，旨在提供当前知识的更新和全面总结，并增进我们对这种罕见疾病的遗传谱、潜在机制、临床表型、诊断和管理方法的理解。重要的是，我们的目标是使医生能够更好地理解这种罕见疾病，并强调遗传病因分析在确保准确诊断、临床管理和遗传咨询方面的关键作用，同时避免对-RD患者进行无效和潜在有害的治疗。
