Table 2.
Comparison of clinical and epidemiological data between PMM2-CDG patients with and without SLE.
| SLE Positive (SD) | SLE Negative (SD) | p-Value | ||
|---|---|---|---|---|
| Number of patients/episodes | 7/9 | 32 | ||
| Age (years) | 13.7 (11.6) * | 16.2 (9.6) | 0.46 | |
| Sex (Male:Female) | 3:4 | 21:11 | 0.19 | |
| Liver function | AST (UI/mL) Normal values 2–34 UI/mL |
378 (317.3) | 172 (235.5) | 0.61 |
| ALT (UI/mL) Normal values 2–36 UI/mL |
277 (220.6) | 216 (327.1) | 0.70 | |
| Coagulation | PT (%) Normal values 80–120% |
95.4 (13.1) | 95.9(24.0) | 0.82 |
| aPTT (seconds) Normal values 23–35 seconds |
33.3 (4.6) | 31.5 (6.0) | 0.53 | |
| F IX (%) Normal values 50–120% |
49.5 (14.9) | 75.2 (25.0) | 0.17 | |
| F XI (%) Normal values 50–120% |
35.9 (15.1) | 59.3 (35.5) | 0.28 | |
| AT III (%) Normal values 60–120% |
43.0 (14.1) | 51.2 (26.8) | 0.82 | |
| Protein C (%) Normal values 60–140% |
38.6 (17.2) | 83.4 (129.9) | 0.46 | |
| Protein S (%) Normal values 60–140% |
52.9 (22.6) | 63.5 (17.5) | 0.31 | |
| Vascular events | Positive personal history | 1/7 | 3/32 | 0.51 |
| Positive familial history | 1/7 | 2/32 | 0.41 | |
| Vermis Midsagittal Relative Diameter (MRI) | 0.48 | 0.41 | 0.44 | |
| Seizures | Febrile seizures | 2/7 | 4/32 | 0.23 |
| Epilepsy | 2/7 | 6/32 | 0.58 | |
* Age at the time of the present study; SD: Standard deviation; AST: aspartate transaminase; ALT: Alanine transaminase; PT: prothrombin time; aPTT: activated partial thromboplastin time; F IX: coagulation factor IX; F XI: coagulation factor XI; ATIII: antithrombin III. Included values for the statistical studies are for the SLE group, values during the episode, and for those “SLE negative” patients, most abnormal values among all the different liver function tests (maximal AST and ALT) and coagulation analysis (lowest coagulation factor activities).