婴儿恶性石骨症1例并文献复习

doi:10.3969/j.issn.1004-583X.2025.08.010

摘要/Abstract

摘要：

目的报道1例以贫血及血小板减少就诊的婴儿恶性石骨症病例,丰富TCIRG1基因突变谱,并综述石骨症的临床表现及治疗方法。方法通过临床检查、实验室检测及基因测序,确诊1例婴儿恶性石骨症病例,分析其临床表现及基因突变特征并复习文献。结果该病例为婴儿期发病,主要表现为贫血及血小板减少,经基因检测发现TCIRG1基因新突变。结合文献,石骨症临床表现多样,婴儿恶性型预后较差,造血干细胞移植是目前最有效的治疗方法。结论本病例丰富了TCIRG1基因突变谱,提示临床医生对不明原因贫血及血小板减少的婴儿应考虑石骨症的可能性。造血干细胞移植是改善预后的关键治疗手段。

关键词: 骨硬化症, TCIRG1 基因突变, 临床表现, 治疗

Abstract:

Objective To report a case of infantile malignant osteopetrosis presented with anemia and thrombocytopenia, and to summarize clinical manifestations and treatment options for it through literature review, thus expanding the gene mutation profiles of the TCIRG1 gene in infantile malignant osteopetrosis. Methods Through clinical examination, laboratory testing, and genetic sequencing, a case of infantile malignant osteopetrosis was diagnosed. The clinical manifestations and genetic mutation characteristics were analyzed, and relevant literatures were reviewed. Results This case occurred during infancy and was mainly characterized by anemia and thrombocytopenia. Genetic testing revealed a new mutation in the TCIRG1 gene. Based on literature review, the clinical manifestations of infantile malignant osteopetrosis were diverse, with a poor prognosis. Hematopoietic stem cell transplantation is currently the most effective treatment method. Conclusion This case enriches the spectrum of the TCIRG1 gene mutations, suggesting that clinical doctors should consider the possibility of malignant osteopetrosis in infants with unexplained anemia and thrombocytopenia. Hematopoietic stem cell transplantation is a key treatment for improving prognosis.

Key words: osteopetrosis, mutations in the TCIRG1 gene, clinical presentation, treatment

中图分类号:

R681

赵伟, 徐慧娟, 赵艳霞, 王玲珍, 卢愿, 杨静. 婴儿恶性石骨症1例并文献复习[J]. 临床荟萃, 2025, 40(8): 726-730.

Zhao Wei, Xu Huijuan, Zhao Yanxia, Wang Lingzhen, Lu Yuan, Yang Jing. Malignant osteopetrosis in infants: A case report and literature review[J]. Clinical Focus, 2025, 40(8): 726-730.

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链接本文: https://www.lchc.cn/CN/10.3969/j.issn.1004-583X.2025.08.010

https://www.lchc.cn/CN/Y2025/V40/I8/726

图/表 9

图1 患儿头颅表现

Fig.1 Cranial manifestations of the infant

图2 患儿影像学检查 a.胸部CT:胸廓诸组成骨密度增高,局部骨质增粗改变;b.颅脑CT:幕上脑室系统扩张,双侧脑室周围可见小斑片状低密度影,边界欠清;c.颅脑MR:双侧额叶体积减小,脑沟较宽,幕上脑室较宽。小脑扁桃体变尖、枕骨大孔拥挤;d.双腕关节DR正位:双侧尺桡骨、双手诸骨骨质密度增高,尺桡骨远端骨质膨胀性改变;e.骨盆DR正位:骨盆诸骨、双侧股骨骨质密度增高,双侧髂骨翼呈“同心圆”样改变。

Fig.2 a.Chest CT: Increased bone density and local bone thickening changes in various components of the chest; b.Brain CT: Dilation of the supratentorial ventricular system, small patchy low-density shadows can be seen around the bilateral ventricles, with unclear boundaries; c.Brain MR: Bilateral frontal lobe volume is reduced, with wider sulci, and wider supratentorial ventricles. Sharp cerebellar tonsils and crowded foramen magnum are seen; d.DR: upright position of bilateral wrist joints: increased bone density in both radius, ulna, and hands, and changes in bone expansion in the distal radius and ulna;e.Pelvic DR upright position: Increased bone density in pelvic bones and bilateral femurs, with concentric changes in bilateral iliac wings.

图3 患儿TCIRG1 C.1114C>T示意图

Fig.3 Schematic diagram of TCIRG1 C.1114C>T in the infant

图4 患儿父亲TCIRG1 C.1114C>T示意图

Fig.4 Schematic diagram of TCIRG1 C.1114C>T in the father of the infant

图5 患儿母亲TCIRG1 C.1114C>T示意图

Fig.5 Schematic diagram of TCIRG1 C.1114C>T in the mother of the infant

图6 患儿TCIRG1 C.1297C>T示意图

Fig.6 Schematic diagram of TCIRG1 C.1297C>T in the infant

图7 患儿父亲TCIRG1 C.1297C>T示意图

Fig.7 Schematic diagram of TCIRG1 C.1297C>T in the father of the infant

图8 患儿母亲TCIRG1 C.1297C>T示意图

Fig.8 Schematic diagram of TCIRG1 C.1297C>T in the mother of the infant

表1 患儿基因变异来源

Tab.1 Sources of genetic variations in the infant

基因(组)	遗传模式	染色体位置	转录本	变异命	人群频率	合子状态	ACMG分类	变异来源
TCIRG1	AR	Chr11:68045051	NM_006019.4	c.1114C>T(p.Q372^*)	-	杂合	致病变异Pathogenic	父亲(杂合)
TCIRG1	AR	Chr11:68047564	NM_006019.4	c.1297C>T(p.Q433^*)	<0.0001	杂合	致病变异Pathogenic	母亲(杂合)

参考文献 12

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