Clinical analysis of hereditary thrombocytopenia in 5 children and literature review
10.3760/cma.j.cn101070-20190416-00325
- VernacularTitle:遗传性血小板减少症5例并文献复习
- Author:
Mingzhu LUO
1
;
Jie YU
;
Ying XIAN
;
Xianhao WEN
;
Xianmin GUAN
;
Yuxia GUO
;
Luying ZHANG
;
Ying DOU
Author Information
1. 重庆医科大学附属儿童医院血液肿瘤科，儿童发育疾病研究教育部重点实验室，儿童发育重大疾病国家国际科技合作基地，儿科学重庆市重点实验室，重庆 400014
- From:
Chinese Journal of Applied Clinical Pediatrics
2020;35(15):1181-1184
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To understand the clinical manifestations, diagnosis, treatment, and prognosis of children with hereditary thrombocytopenia (HT).Methods:The clinical data of 5 patients with HT in the Hematology and Oncology Department of Children′s Hospital of Chongqing Medical University from August 2015 to October 2017 were retrospectively analyzed. The clinical and laboratory characteristics, treatment, and prognosis of HT were discussed by reviewing relevant literatures.Results:Five patients included 3 boys and 2 girls.The median age at onset of 4 years and 2 months old and the median age at diagnose was 4 years and 4 months old.All patients presented with the thrombocytopenia, among which 4 cases were macrothrombocytopenia and 1 case was normothrombocytopenia.The main clinical presentations of 5 patients were skin petechiae and ecchymoses.Four cases were initially misdiagnosed as immune thrombocytopenia (ITP) and received the glucocorticoid and immunoglobulin, while the therapeutic effect was not satisfactory.The gene sequencing confirmed MYH9 gene mutation(c.3493C>T), MYH9 gene mutation(c.5878G>A), NBEAL2 gene compound heterozygous mutation(c.295C>T; c.4169C>T), GP1BA gene mutation(c.1761A>C), and ANKRD26 gene mutation(c.5123A>G), in 5 patients respectively. Conclusions:HT should be suspected among those with recurrent isolated thrombocytopenia and no response to the ITP regimen, and the early gene screening is of great significance to the patients′ treatment and prognosis.
