摘要
婴儿恶性石骨症(IMO)主要表现为全身骨骼骨质密度增高、骨髓腔变小及严重的髓外造血,尽早进行造血干细胞移植是目前唯一有效的治疗方法。该文报道1例3月龄的IMO男性患儿,其因血常规异常10 d,右侧腹股沟斜嵌顿疝术后9 d就诊。患儿主要临床表现为吸气性呼吸困难、肝脾肿大,血红蛋白及血小板减少,胸部及骨盆X线、头颅及颈部CT检查显示诸骨骨密度增高,高精度临床外显PLUS检测显示患儿T细胞免疫调节因子1(TCIRG1)基因存在纯合突变c.1480delC(p.Q494Sfs*34),该突变目前尚未见文献报道,测序数据显示该变异来自患儿父母(父母均为杂合状态,为近亲婚配)。
Infantile malignant osteopetrosis(IMO) is mainly manifested with the increased bone density, smaller bone marrow cavity and severe extramedullary hematopoiesis. At present, hematopoietic cell transplantation represents the only curative treatment for IMO. In this article, we reported a 3-month-old male infant with IMO. He was admitted due to abnormal hemograms for 10 d at 9 d after incarcerated right oblique inguinal hernia surgery. Clinical manifestations mainly included inspiratory dyspnea, hepatosplenomegaly and decreased levels of hemoglobin and platelets. Thoracic and pelvic X-ray examination and CT scan of head and neck revealed increased bone density. High-resolution clinical exome sequencing detected homozygous mutation of c. 1480delC(p.Q494Sfs*34) in the T-cell immune regulator 1(TCIRG1) gene, which has not been reported yet. Sequencing data showed that this mutation was inherited from his parents(heterozygous status in his parents, his parents were cousins).
作者
潘良武
杨榷
陈晗
黄花荣
吴葆菁
Pan Liangwu;Yang Que;Chen Han;Huang Huarong;Wu Baojing(Department of Pediatrics,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120,China)
出处
《新医学》
CAS
2022年第4期297-300,共4页
Journal of New Medicine
