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SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review.
- Source :
-
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences [Zhong Nan Da Xue Xue Bao Yi Xue Ban] 2021 Jan 28; Vol. 46 (1), pp. 108-112. - Publication Year :
- 2021
-
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.
Details
- Language :
- English; Chinese
- ISSN :
- 1672-7347
- Volume :
- 46
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
- Publication Type :
- Academic Journal
- Accession number :
- 33678645
- Full Text :
- https://doi.org/10.11817/j.issn.1672-7347.2021.190322