Department of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Jan 28;46(1):108-112. doi: 10.11817/j.issn.1672-7347.2021.190322.
A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.
一名患有婴儿恶性骨硬化症（IMO）的患者因 SNX10 基因突变被收入中南大学湘雅三医院儿科。该患者有贫血、肝脾肿大和生长迟缓的症状。X 射线检查提示全身骨密度广泛增加，临床诊断为 IMO。通过基因测序发现 SNX10 基因 c.61C>T 纯合突变。我们复习了相关文献，发现贫血、视觉和听觉障碍、肝脾肿大是 IMO 的主要临床症状，SNX10 基因突变是 IMO 的罕见病因，造血干细胞移植是一种有效的治疗方法。
