先天性血小板减少症与双胞胎姐妹的 GNE 突变相关：病例报告及文献复习。
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
机构信息
Department of Pediatrics, The Third Xiangya Hospital, Central South University, Tongzipo Road NO.138, Changsha, 410013, China.
Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, Sichuan, China.
出版信息
BMC Med Genet. 2020 Nov 16;21(1):224. doi: 10.1186/s12881-020-01163-2.
BACKGROUND
Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations.
CASE PRESENTATION
Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation.
CONCLUSION
These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates.
背景
新生儿血小板减少症在入住新生儿重症监护病房的早产儿和足月儿中很常见。新生儿血小板减少症的病因很复杂。遗传性血小板减少症很少见，通常是由基因突变引起的。
病例介绍
在这里，我们报告了一例双胞胎在新生儿期表现出严重遗传性血小板减少症的病例，他们被发现是 UDP-N-乙酰葡糖胺 2-差向异构酶（GNE）基因的 2 个突变的复合杂合子，c.1351C>T 和 c.1330G>T，其中 c.1330G>T 是一种新的突变。
结论
这两个 GNE 突变可能有助于诊断和管理新生儿血小板减少症。
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