A literature review and case report of severe hepatitis caused by the G6PD gene c.1478G>A muta-tion
G6PD (glucose-6-phosphate dehydrogenase) deficiency is the most common enzyme deficiency disease in humans affecting over 500 million people worldwide, with most patients being children aged 2 to 10 years. G6PD deficiency usually has an acute onset and manifests as acute hemolytic anemia. Clinically...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | zho |
| Published: |
Editorial Office of New Medicine
2021-08-01
|
| Series: | Yixue xinzhi zazhi |
| Subjects: | |
| Online Access: | https://yxxz.whuznhmedj.com/storage/attach/2108/tq0SDj7TTwgqwFKcFvjTnuLZNQTCAQigeFd7rJsI.pdf |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | G6PD (glucose-6-phosphate dehydrogenase) deficiency is the most common enzyme deficiency disease in humans affecting over 500 million people worldwide, with most patients being children aged 2 to 10 years. G6PD deficiency usually has an acute onset and manifests as acute hemolytic anemia. Clinically, G6PD deficiency leads to acute hemolytic anemia and cases with severe hepatitis are relatively rare. This article reports a case of acute hemolytic anemia complicated by severe hepatitis, which made a rapid recovery after supportive symptomatic treatment. It analyzes the results of the child’s clinical data, auxiliary examinations and gene sequencing, and summarizes the clinical and genetic characteristics of acute hemolytic anemia complicated by severe hepatitis caused by G6PD deficiency. In addition, the genetic sequencing of this patient detected a new mutation site of the G6PD gene c.1478G>A (p.Arg493His), which expands the clinical genetic understanding of G6PD deficiency with severe liver damage. |
|---|---|
| ISSN: | 1004-5511 |