Table 1 Clinical, laboratory and instrumental data of patients’s cohort
From: Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Patient | #1 | #2 | #3 | #4 | #5 | #6 | #7 | #8 | #9 | #10 | #11 | #12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age at diagnosis | 1 m | 27 d | 1 m | 17 d | 2 m | 3 y | 8 m | 29 d | 1 m | 28 d | 1 m | 28 d |
Age at last visit | 5 y | 8 y | 19 y | 9 y | 9 y | 10 y | 1 y | 2 y | 2 y | 7 m | 7 m | 10 m |
Age at tracheostomy | 56 d | 60 d | 224 d | NIV | 77 d | 187 d | NIV | No | NIV | 29 d | 125 d | No |
Hour of ventilation | 24 | 24 | 10 | 10 | 12 | 14 | 9 | 12 | 8 | 24 | 10 | No |
Age at gastrostomy | 1 m | 2 m | 7 m | 1y, 10 m | 5 m | 6 m | 8 m | 2 m | 7 m | 29 d | 24 d | 3 m |
Cholelithiasis, (age at first observation) | Yes (25 m) | No | No | Yes (22 m) | Yes (47 m) | Yes (100 m) | No | No | yes (18 m) | No | No | No |
Transaminases | Elevated | Elevated | nv | nv | nv | elevated | nv | nv | elevated | nv | nv | elevated |
Liver echo | Dishom. | Hyper echogenic | No | Dishom. | Dishom. | Peliosis, dishom. | No | No | dishom. | Peliosis, dishom. | No | No |
Nephrolithiasis | yes | Yes | No | Yes | Yes | No | No | No | No | No | Yes | No |
Cryptorchidism | Yes | Yes | No | Yes | Yes | Yes | Yes | Yes | No | yes | Yes | yes |
Ophtalmoplegia | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes | yes | No | No | No |
Head control | No | 20 m | 24 m | 24 m | 12 m | 10 m | No | 14 m | 21 m | No | No | 6 m |
Sitting position | No | 24 m (lost 36 m) | 27 m | No | 50 m | 14 m (lost 9 y) | No | 18 m | 26 m | No | No | 8 m |
Walking | No | No | 30 m (lost 13 y) | No | No | No | No | No | No | No | No | No |
Scoliosis | No | 30° | > 60° | 47° | 40° | >60° | No | No | No | No | No | No |
Coagulation or hematologic defect | No | No | No | No | thrombosis | No | No | No | No | No | No | No |