Article
Diagnosis, treatment and genetic analysis of an elderly patient with Gaucher's disease characterized by marked multiple bone destruction.
Yi chuan = Hereditas - 20 Mar 2023
Qin Shu-Chao, Yin Hua, Wang Rong, Zhu Fei-Peng, Li Jian-Yong, Lu Rui-Nan
Abstract excerpt
Gaucher's disease is a rare autosomal recessive genetic disease. Due to the decrease or lack of glucocerebrosidase (GBA) activity in lysosome caused by the mutation of GBA gene, its substrate glucocerebroside is detained in lysosome, resulting in clinical manifestations of liver, spleen, kidney, bone, hematopoietic system and even nervous system involvement. Here, we report a case of elderly patient presenting...
Topics
- Aged
- Child
- Humans
- Male
- Gaucher Disease
- Glucosylceramidase
- Liver
- Mutation
- Mutation, Missense