Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania.
Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26949. Epub 2017 Dec 29.
MYH9-related disease is a rare cause of thrombocytopenia. We report an infant girl who presented with severe thrombocytopenia at birth and was initially diagnosed with and treated for neonatal alloimmune thrombocytopenia. However, persistent thrombocytopenia led to the suspicion of congenital thrombocytopenia and subsequent identification of a novel variant in MYH9 (E1421K). In silico analysis strongly predicts that this is a disruptive substitution. Immunofluorescent analysis of neutrophils demonstrates abnormal aggregates of MYH9 protein. This case also suggests that a very high immature platelet fraction (≥40%) may be useful for rapidly differentiating MYH9-related disease from other causes of neonatal thrombocytopenia.
MYH9 相关疾病是血小板减少症的罕见病因。我们报告了一例婴儿女患，其在出生时即出现严重血小板减少症，最初被诊断为新生儿同种免疫性血小板减少症并接受治疗。然而，持续性血小板减少症引起对先天性血小板减少症的怀疑，并随后在 MYH9 中发现一种新的变异（E1421K）。计算机分析强烈预测这是一种破坏性替代。中性粒细胞免疫荧光分析显示 MYH9 蛋白异常聚集。该病例还提示非常高的未成熟血小板分数（≥40%）可能有助于快速区分 MYH9 相关疾病与其他新生儿血小板减少症的病因。
