Your browser doesn't support javascript.
loading
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 English | WPRIM | ID: wpr-880630
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.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteopetrosis / Bone Density / Hematopoietic Stem Cell Transplantation / Sorting Nexins / Mutation Limits: Child / Humans Language: English Journal: Journal of Central South University(Medical Sciences) Year: 2021 Type: Article

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteopetrosis / Bone Density / Hematopoietic Stem Cell Transplantation / Sorting Nexins / Mutation Limits: Child / Humans Language: English Journal: Journal of Central South University(Medical Sciences) Year: 2021 Type: Article