Table 1 Clinical characteristics and genotype of patients with Gaucher disease and gastrointestinal mucosal involvement
Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | |
|---|---|---|---|---|---|---|---|
Age at onset | 33 years | 33 years | fetal period | fetal period | 11 months | 10 years | 39 years |
Type | non-neuronopathic | non-neuronopathic | acute neuronopathic | acute neuronopathic | acute neuronopathic | non-neuronopathic | non-neuronopathic |
Involvement sites | duodenal mucosa | duodenal mucosa | stomach, small intestine | gastrointestinal (GI) tract | gastric mucosa | colon | GI tract (from stomach to rectum) |
Symptoms | severe dyspepsia, weight loss | mild dyspepsia, weight loss | hydrops fetalis | colloid baby | massive GI bleeding | hematochezia, cured | GI bleeding |
Treatment | SRT (eliglustat tartrate) | ERT | none | none | high dose of ERT, PPI | endoscopic sclerotherapy, polypectomy | none |
Outcome | improving | persistent | expired | expired | Expired | cured | expired |
GBA gene | p.R48W, p.R257Q | p.R257Q, p. P171fsX21 | p.R120W, p.S196P | Homozygous for p.L483P | NA | NA | |
Age at splenectomy | 5 years | 5 years | ND | ND | ND | 4 years | ND |
Reference | present cases | [9] | [12] | [13] | [14] | [15] | |