SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review.
10.11817/j.issn.1672-7347.2021.190322
- Author:
Ting ZHOU
1
;
Caixia ZENG
2
;
Qiong XI
2
;
Zuocheng YANG
3
Author Information
1. Department of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China. 603313577@qq.com.
2. Department of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China.
3. Department of Pediatrics, Third Xiangya Hospital, Central South University, Changsha 410013, China. yang_zcr@126.com.
- Publication Type:Review
- Keywords:
SNX10;
hematopoietic stem cell transplantation;
infantile malignant osteopetrosis
- MeSH:
Bone Density;
Child;
Hematopoietic Stem Cell Transplantation;
Humans;
Mutation;
Osteopetrosis/genetics*;
Sorting Nexins/genetics*
- From:
Journal of Central South University(Medical Sciences)
2021;46(1):108-112
- CountryChina
- Language:English
-
Abstract:
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.
