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Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review



Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review



Zhonghua Er Ke Za Zhi 55(12): 942-946



目的: 探讨NBAS基因缺陷性疾病的临床特征及基因变异特点。 方法: 回顾性分析2017年3月深圳市儿童医院风湿免疫科收治的1例SOPH综合征患儿的临床资料、免疫学指标及基因变异特点,以NBAS基因为检索词,检索PubMed、万方、中国知网、重庆维普2009年1月至2017年3月NBAS基因变异相关文献。总结NBAS基因缺陷患者的临床特征、免疫学指标及基因变异特点。 结果: (1)患儿女,2岁4月龄,因"发热伴面色苍白1 d"入院。患儿自胎儿期即出现宫内发育迟缓,生后出现反复下呼吸道感染、持续肝功能异常及生长发育落后。头围43.5 cm,身高60 cm,面色、皮肤黏膜苍白,早老外观,皮肤松弛,毛发稀疏,颅缝未闭,前囟约6 cm×5 cm,张力不高,眼球外凸,低耳位,肝脏右肋下2 cm,脾脏肋下1.5 cm,四肢肌力、肌张力偏低。监测肝酶示丙氨酸转氨酶100~1 991 U/L,天冬氨酸转氨酶191~1 367 U/L;视觉诱发电位及眼底检查提示视神经萎缩;骨密度评估为同龄儿45%;血红蛋白53 g/L;骨髓涂片示骨髓增生减低,红系增生严重减低;IgG 2 g/L(正常3.41~19.6),CD19(+)淋巴细胞绝对值231.27/μl(608.8~2 167.7);基因测序分析显示NBAS基因c.5741C>T、pR1914H和c.6496-6497insA、p.S2166Ffs*2复合杂合变异。(2)文献检索共收集到8篇英文文献,共包括57例NBAS基因纯合或复合杂合变异患者,表现为身材矮小50例(88%),外周血涂片P-H细胞阳性43例(75%),骨骼发育异常42例(74%),视神经萎缩41例(72%),不同程度肝酶异常或急性肝衰竭24例(42%),免疫系统异常11例(19%),智力、语言或运动发育落后6例(11%),其他常见临床表现还有早老外观、眼球外凸和肌张力降低等。57例中35例(61%)存在NBAS基因为c.[5741G>A]、[5741G>A]位点变异。 结论: NBAS基因缺陷性疾病主要临床特征为身材矮小、视神经萎缩、P-H细胞阳性、骨骼发育异常、反复感染、肝酶异常、早老外观、眼球外凸及肌张力降低,还可并发免疫缺陷及再生障碍性贫血等,基因测序分析显示NBAS基因纯合或复合杂合变异,c.[5741G>A]纯合变异为热点变异。.

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Accession: 065511191

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PMID: 29262476


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