Abstract | BACKGROUND: CASE PRESENTATION: Here, 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. CONCLUSION:
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Authors | Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 18
Issue 1
Pg. 55
(05 15 2017)
ISSN: 1471-2350 [Electronic] England |
PMID | 28506293
(Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Enzyme Inhibitors
- Pyrrolidines
- eliglustat
- Hexosaminidases
- chitotriosidase
- beta-Glucosidase
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Topics |
- Adult
- Child
- Duodenum
(pathology)
- Enzyme Inhibitors
(therapeutic use)
- Enzyme Replacement Therapy
(methods)
- Gaucher Disease
(drug therapy, genetics)
- Hexosaminidases
(metabolism)
- Humans
- Infant
- Male
- Pyrrolidines
(therapeutic use)
- Treatment Outcome
- Twins, Monozygotic
- beta-Glucosidase
(genetics)
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