From: Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice
Patient | MNGIE-1 | MNGIE-2[22] | MNGIE-3 | Control-1 | Control-2 | Control-3 |
---|---|---|---|---|---|---|
Age of onset | 18 y | 23 y | 10 y | NA | NA | NA |
GI symptoms | Diarrhea, vomiting, weight loss, abdominal pain, liver steatosis | Diarrhea, weight loss, liver steatosis | Diarrhea, weight loss, abdominal pain | NA | NA | NA |
Extra-GI symptoms | Ptosis, peripheral neuropathy, neurogenic bladder, leukoencephalopathy, lactic acidosis, hypertriglyceridemia | External ophtalmoplegia, peripheral neuropathy, leukoencephalopathy | Retinopathy, peripheral neuropathy, leukoencephalopathy | NA | NA | NA |
Diagnosis | TP deficiency | Urinary d-Urd, c.866Aā>āC in TYMP | c.866Aā>āC in TYMP | Pancreatitis | IOPN | GIST |
Treatment of MNGIE (age) | None | Allogeneic HSCT (34 y) | Allogeneic HSCT (17 y) | ā | ā | ā |
Follow-up | Alive (6 y) | Multi-organ failure; died 18Ā days after treatment | GVHD, sepsis; died 6Ā months after treatment | NA | NA | NA |