SNX10基因突变致婴儿恶性石骨症1例并文献复习

SNX10基因突变致婴儿恶性石骨症1例并文献复习

中南大学湘雅三医院儿科收治1例SNX10基因突变致婴儿恶性石骨症(infantile malignant osteopetrosis,IMO)患儿.该患儿临床表现为贫血、肝脾肿大、生长发育迟缓,X线检查提示全身骨密度广泛增高,临床诊断为IMO.基因测序为SNX10基因c.61C>T纯合突变.通过对国内外相关文献进行复习,发现贫血、视听力障碍、肝脾肿大是IMO的主要临床症状,SNX10基因突变是导致IMO的罕见原因,造血干细胞移植是其有效的治疗手段....

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Veröffentlicht in:Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban 2021-01, Vol.46 (1), p.108-112
Hauptverfasser: 周婷, 曾彩霞, 席琼, 杨作成
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container_title Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban
container_volume 46
creator 周婷
曾彩霞
席琼
杨作成
description 中南大学湘雅三医院儿科收治1例SNX10基因突变致婴儿恶性石骨症(infantile malignant osteopetrosis,IMO)患儿.该患儿临床表现为贫血、肝脾肿大、生长发育迟缓,X线检查提示全身骨密度广泛增高,临床诊断为IMO.基因测序为SNX10基因c.61C>T纯合突变.通过对国内外相关文献进行复习,发现贫血、视听力障碍、肝脾肿大是IMO的主要临床症状,SNX10基因突变是导致IMO的罕见原因,造血干细胞移植是其有效的治疗手段.
doi_str_mv 10.11817/j.issn.1672-7347.2021.190322
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title SNX10基因突变致婴儿恶性石骨症1例并文献复习
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