Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

BMC Medical Genetics

Case Report

Su Bum Park¹  Dong Hoon Shin²  Yoo-Mi Kim³  Chong Kun Cheon⁴  Han-Wook Yoo⁵ 

[1] Department of Internal Medicine, College of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea;Department of Pathology, College of Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea;Department of Pediatrics, College of Medicine, Pusan National University Children’s Hospital, Yangsan, Korea;Department of Pediatrics, College of Medicine, Pusan National University Children’s Hospital, Yangsan, Korea;Department of Pediatrics, Pusan National University Children’s Hospital, Pusan National University School of Medicine, Geumo-ro, 602-739, Yangsan-si, Gyeongnam, Korea;Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea;Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, 138-736, Songpa-gu, Seoul, Korea;

关键词: Gaucher disease;    Duodenal involvement;    Enzyme replacement therapy;    Eliglustat tartrate;   

DOI  :  10.1186/s12881-017-0403-x

 received in 2016-12-20, accepted in 2017-04-07,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundGastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).Case presentationHere, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both. Improvement in the gastroduodenal infiltration and reduced chitotriosidase levels were observed in one who switched to eliglustat tartrate for 1 year, whereas the other one who maintained ERT showed no improvement of chitotriosidase level and persistent duodenal lesions.ConclusionThis shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT.

【 授权许可】

CC BY   
© The Author(s). 2017