血细胞减少伴多发畸形2例

患儿1,女,10岁,因全血细胞减少伴反复鼻衄就诊,有反复上呼吸道感染史,有皮肤咖啡斑、小头畸形,基因检测发现DNA连接酶Ⅳ(ligase Ⅳ,LIG4)基因存在复合杂合变异,诊断为L1G4综合征.患儿2,女,6岁,因血小板减少2年余就诊,有身材矮小、皮肤黝黑、手部畸形等,染色体断裂试验检查结果为阳性,诊断为范可尼贫血互补组A型.该2例患儿临床表现相似,最终诊断为两类疾病,提示血细胞减少伴畸形的患儿并非仅是血液病,需警惕免疫系统等其他疾病.[中国当代儿科杂志,2024,26(4):410-413]...

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Published inZhongguo dang dai er ke za zhi Vol. 26; no. 4; pp. 410 - 413
Main Authors 常丽贤, 张丽, 高怡曼, 竺晓凡
Format Journal Article
LanguageChinese
English
Published 湖南省长沙市湘雅路87号 中南大学湘雅医院内 天津医学健康研究院,天津 301600 15.04.2024
中国医学科学院血液病医院(中国医学科学院血液学研究所)/实验血液学国家重点实验室/国家血液系统疾病临床医学研究中心/细胞生态海河实验室,天津 300020
《中国当代儿科杂志》编辑部
Subjects
Case Report
范可尼贫血
畸形
Fanconi anemia
Malformation
LIG4综合征
血细胞减少
儿童
Cytopenia
Child
LIG4 syndrome
Online AccessGet full text
ISSN1008-8830
2096-9228
DOI10.7499/j.issn.1008-8830.2311058

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Abstract 患儿1,女,10岁,因全血细胞减少伴反复鼻衄就诊,有反复上呼吸道感染史,有皮肤咖啡斑、小头畸形,基因检测发现DNA连接酶Ⅳ(ligase Ⅳ,LIG4)基因存在复合杂合变异,诊断为L1G4综合征.患儿2,女,6岁,因血小板减少2年余就诊,有身材矮小、皮肤黝黑、手部畸形等,染色体断裂试验检查结果为阳性,诊断为范可尼贫血互补组A型.该2例患儿临床表现相似,最终诊断为两类疾病,提示血细胞减少伴畸形的患儿并非仅是血液病,需警惕免疫系统等其他疾病.[中国当代儿科杂志,2024,26(4):410-413]
AbstractList 患儿1，女，10岁，因全血细胞减少伴反复鼻衄就诊，有反复上呼吸道感染史，有皮肤咖啡斑、小头畸形，基因检测发现DNA连接酶IV（ligase IV, LIG4 ）基因存在复合杂合变异，诊断为LIG4综合征。患儿2，女，6岁，因血小板减少2年余就诊，有身材矮小、皮肤黝黑、手部畸形等，染色体断裂试验检查结果为阳性，诊断为范可尼贫血互补组A型。该2例患儿临床表现相似，最终诊断为两类疾病，提示血细胞减少伴畸形的患儿并非仅是血液病，需警惕免疫系统等其他疾病。
患儿1,女,10岁,因全血细胞减少伴反复鼻衄就诊,有反复上呼吸道感染史,有皮肤咖啡斑、小头畸形,基因检测发现DNA连接酶Ⅳ(ligase Ⅳ,LIG4)基因存在复合杂合变异,诊断为L1G4综合征.患儿2,女,6岁,因血小板减少2年余就诊,有身材矮小、皮肤黝黑、手部畸形等,染色体断裂试验检查结果为阳性,诊断为范可尼贫血互补组A型.该2例患儿临床表现相似,最终诊断为两类疾病,提示血细胞减少伴畸形的患儿并非仅是血液病,需警惕免疫系统等其他疾病.[中国当代儿科杂志,2024,26(4):410-413]
Abstract_FL The first patient,a 10-year-old girl,presented with pancytopenia and recurrent epistaxis,along with a history of repeated upper respiratory infections,café-au-lait spots,and microcephaly.Genetic testing revealed compound heterozygous mutations in the DNA ligase Ⅳ(LIG4)gene,leading to a diagnosis of LIG4 syndrome.The second patient,a 6-year-old girl,was seen for persistent thrombocytopenia lasting over two years and was noted to have short stature,hyperpigmented skin,and hand malformations.She had a positive result from chromosome breakage test.She was diagnosed with Fanconi anemia complementation group A.Despite similar clinical presentations,the two children were diagnosed with different disorders,suggesting that children with hemocytopenia and malformations should not only be evaluated for hematological diseases but also be screened for other potential underlying conditions such as immune system disorders.[Chinese Journal of Contemporary Pediatrics,2024,26(4):410-4131
Author 高怡曼
竺晓凡
常丽贤
张丽
AuthorAffiliation 中国医学科学院血液病医院(中国医学科学院血液学研究所)/实验血液学国家重点实验室/国家血液系统疾病临床医学研究中心/细胞生态海河实验室,天津 300020;天津医学健康研究院,天津 301600
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Author_FL ZHANG Li
ZHU Xiao-Fan
CHANG Li-Xian
GAO Yi-Man
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Copyright Copyright © Wanfang Data Co. Ltd. All Rights Reserved.
版权所有 © 2024中国当代儿科杂志 © 2024 Chinese Journal of Contemporary Pediatrics
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DocumentTitle_FL Two cases of cytopenia associated with multiple malformations
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Issue 4
Keywords 范可尼贫血
畸形
Fanconi anemia
Malformation
LIG4综合征
血细胞减少
儿童
Cytopenia
Child
LIG4 syndrome
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English
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Notes 常丽贤，女，博士，副主任医师。Email：changlixian@ihcams.ac.cn
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PublicationYear 2024
Publisher 天津医学健康研究院,天津 301600
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《中国当代儿科杂志》编辑部
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Snippet 患儿1,女,10岁,因全血细胞减少伴反复鼻衄就诊,有反复上呼吸道感染史,有皮肤咖啡斑、小头畸形,基因检测发现DNA连接酶Ⅳ(ligase...
患儿1，女，10岁，因全血细胞减少伴反复鼻衄就诊，有反复上呼吸道感染史，有皮肤咖啡斑、小头畸形，基因检测发现DNA连接酶IV（ligase IV, LIG4...
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StartPage 410
SubjectTerms Case Report
Title 血细胞减少伴多发畸形2例
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