与α-辅肌动蛋白1相关的巨血小板减少症：小儿血小板减少症进展领域中的一种新病症。
ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.
作者信息
Boutroux Helene, David Bianca, Guéguen Paul, Frange Pierre, Vincenot Anne, Leverger Guy, Favier Rémi
机构信息
*Department of pediatric Hematology and Oncology #Haematological Laboratory **French Reference Center for Inherited Platelet Disorders, Trousseau Hospital (AP-HP) ∥Department of Immunology and Hematology, Necker Hospital (AP-HP) ¶Haematological Laboratory, Robert Debré Hospital (AP-HP) †UPMC Univ Paris 06, UMR_S938, Sorbonne University, Paris ‡Department of General Pediatrics, Kremlin-Bicêtre Hospital (AP-HP), Kremlin-Bicêtre §Molecular Genetic Laboratory, INSERM, U1078, CHRU de Brest, Brest, France.
出版信息
J Pediatr Hematol Oncol. 2017 Nov;39(8):e515-e518. doi: 10.1097/MPH.0000000000000885.
UNLABELLED
The most common cause of thrombocytopenia in children is immune thrombocytopenia. Nevertheless, some atypical cases should evoke the hypothesis of genetic thrombocytopenia. Indeed, in the past years, 30 new genes had been described in the field of inherited thrombocytopenia. We report a series of 11 cases of a newly diagnosed entity: ACTN1-related macrothrombocytopenia. Mutations in the gene ACTN1 cause mild macrothrombocytopenia characterized by elevated mean platelet volume and elevated immature platelet fraction, and low bleeding tendency. Its transmission is autosomal dominant. Molecular diagnosis is made by sequencing the ACTN1 gene. Its potential role in hematological malignancy predisposition remains unclear and should be clarified.
CONCLUSION
We identified 11 patients with ACTN1-related macrothrombocytopenia diagnosed through pediatric probands. The aim was to underline the specificities of this entity, especially in children, and bring it to the knowledge of pediatricians.
未标注
儿童血小板减少症最常见的病因是免疫性血小板减少症。然而，一些非典型病例应引发遗传性血小板减少症的假说。事实上，在过去几年中，遗传性血小板减少症领域已描述了30个新基因。我们报告了一系列11例新诊断的疾病：与α-辅肌动蛋白1（ACTN1）相关的巨大血小板减少症。ACTN1基因突变导致轻度巨大血小板减少症，其特征为平均血小板体积升高、未成熟血小板比例升高且出血倾向低。其遗传方式为常染色体显性遗传。通过对ACTN1基因进行测序进行分子诊断。其在血液系统恶性肿瘤易感性中的潜在作用仍不清楚，有待阐明。
结论
我们通过儿科先证者确定了11例与ACTN1相关的巨大血小板减少症患者。目的是强调该疾病的特点，尤其是在儿童中的特点，并让儿科医生了解这一疾病。
Zotero 插件