SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
; (12): 108-112, 2021.
Article
in En
| WPRIM
| ID: wpr-880630
Responsible library:
WPRO
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.
Key words
Full text:
1
Database:
WPRIM
Main subject:
Osteopetrosis
/
Bone Density
/
Hematopoietic Stem Cell Transplantation
/
Sorting Nexins
/
Mutation
Limits:
Child
/
Humans
Language:
En
Journal:
Journal of Central South University(Medical Sciences)
Year:
2021
Document type:
Article