Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection.
Wiskott-Aldrich syndrome that was initially diagnosed as immune thrombocytopenic purpura secondary to a cytomegalovirus infection.
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DOI：
10.1177/2050313x17753788
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发表时间：
2018
影响因子：
0.8
通讯作者：
Isoyama K
中科院分区：
文献类型：
--
作者：
Kaneko R;Yamamoto S;Okamoto N;Akiyama K;Matsuno R;Toyama D;Hoshino A;Imai K;Isoyama K
Wiskott-Aldrich综合征是一种罕见的X连锁隐性疾病，由WAS基因变异引起。Wiskott-Aldrich综合征有时很难与免疫性血小板减少性紫癜鉴别。一名2个月大的男孩因紫斑症和血小板减少症入院。报告称其平均血小板体积正常。静脉注射免疫球蛋白治疗未能改善患者的血小板计数。随后，通过血清学检测和抗原血症证实了急性巨细胞病毒感染。患者被诊断为继发于巨细胞病毒感染的免疫性血小板减少性紫癜。然而，根据患者的临床病程和其病情的难治性，强烈怀疑Wiskott-Aldrich综合征。通过对Wiskott-Aldrich综合征蛋白（WASP）基因的基因组DNA进行直接测序，我们在患者WASP基因的外显子3中发现了一种新的错义突变（c. 343 C>T，p.H115T），患者在发病后3个月被诊断为Wiskott-Aldrich综合征。患有Wiskott-Aldrich综合征的儿童通常最初被诊断为免疫性血小板减少性紫癜，这可能导致不适当的治疗和延迟挽救生命的确定性治疗。我们的研究结果表明，Wiskott-Aldrich综合征应被视为难治性免疫性血小板减少性紫癜合并巨细胞病毒感染的鉴别诊断。
Wiskott–Aldrich syndrome is a rare X-linked recessive disease resulting from variations in the WAS gene. Wiskott–Aldrich syndrome is sometimes difficult to differentiate from immune thrombocytopenic purpura. A 2-month-old boy was admitted to our hospital for purpura and thrombocytopenia. His mean platelet volume was reported to be normal. Treatment with intravenous immunoglobulins failed to improve the patient’s platelet count. Subsequently, an acute cytomegalovirus infection was confirmed by serological testing and antigenemia. The patient was diagnosed with immune thrombocytopenic purpura secondary to a cytomegalovirus infection. However, based on the patient’s clinical course and the refractoriness of his condition, Wiskott–Aldrich syndrome was strongly suspected. Through direct sequencing of the genomic DNA of the Wiskott–Aldrich syndrome protein (WASP) gene, we identified a novel missense mutation in exon 3 of the patient’s WASP gene (c. 343 C>T, p. H115T), and the patient was diagnosed with Wiskott–Aldrich syndrome at 3 months after onset. Children with Wiskott–Aldrich syndrome are often initially diagnosed with immune thrombocytopenic purpura, which can lead to inappropriate treatment and delays to life-saving definitive therapy. Our findings imply that Wiskott–Aldrich syndrome should be considered as a differential diagnosis in cases of refractory immune thrombocytopenic purpura combined with a cytomegalovirus infection.