Table 1 Transplant-related data
From: Liver transplantation in glycogen storage disease: a single-center experience
Patient | Gender | Type of GSD | Age at diagnosis (y) | Age at transplant (y) | Indication for transplant | Donor | Donor age | Blood type combination | Graft type | Mutation variant | Follow-up (y) | Pre-transplant liver biopsy | Post-transplant liver biopsy | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | Male | GSD Ia | 1 | 16 | Cirrhosis | DD | 38 | Compatible | Whole graft | p.G188R G641 → C | 7.8 | Macrovesicular steatosis with hepatitis, clear cytoplasm, severe fibrosis | Normal | Good graft function |
P2 | Male | Most likely GSD IV | 0.5 | 3 | Failure to thrive, Cirrhosis | LD (Mother) | 35 | Compatible | Left lateral segment | – | 7.7 | Intracytoplasmic inclusion, severe fibrosis | Mild gross hepatomegaly, microvesicular steatosis | Good graft function |
P3 | Male | GSD Ia | 0.83 | 21 | Cirrhosis | DD | 15 | Identical | Whole graft | c.79delC(p.Q27Xfs) | 7.5 | Macrovesicular steatosis with hepatitis, clear cytoplasm, severe fibrosis | Normal | Good graft function |
P4 | Male | Most likely GSD III | 2 | 38 | Increasing liver size and Cirrhosis | DD | 19 | Identical | Whole graft | – | 7.4 | Plant-like hepatocyte with clear cytoplasm, severe fibrosis | Normal | Good graft function |
P5 | Male | Most likely GSD III | 1.5 | 3 | Failure to thrive and Cirrhosis | LD (Father) | 36 | Identical | Left lateral segment | – | 7.4 | Plant-like hepatocyte with clear cytoplasm, severe fibrosis | Mild gross hepatomegaly, microvesicular steatosis | Good graft function |
P6 | Male | GSD Ia | 0.7 | 6 | Cirrhosis | DD | 4 | Identical | Whole graft | c.70 C > T(p.Q24X) | 5.5 | Macrovesicular steatosis with hepatitis, clear cytoplasm, severe fibrosis | Normal | Good graft function |
P7 | Male | GSD IV | 1 | 3 | Failure to thrive and Cirrhosis | LD (Mother) | 29 | Identical | Left lateral segment | c.998 A > T (p.Glu333Val),c.292G > C(p.Val98Leu) | 2.8 | Intracytoplasmic inclusion, severe fibrosis | Mild gross hepatomegaly, microvesicular steatosis | Good graft function |
P8 | Female | Most likely GSD III | 1.5 | 28 | Increasing liver size and Cirrhosis | DD | 35 | Identical | Whole graft | – | 0.8 | Plant-like hepatocyte with clear cytoplasm, severe fibrosis | Normal | Good graft function |