P1 | P2 | P3 | P4 | P5 | P6 | ||
---|---|---|---|---|---|---|---|
Form | Juvenile-onset | Juvenile-onset | Juvenile-onset | Infantile-onset | Infantile-onset | Infantile-onset | |
Gender | F | M | F | M | M | M | |
Age of onset (mo) | 15 | 20 | 47 | 5 | 1 | 4 | |
Initial symptoms | Unsteady walking, recurrent respiratory infection | Walked slowly,recurrent respiratory infection | Generalized fatigue, slow running, hoarse voice, ptosis | Myocardial hypertrophy, delayed gross motor skills | Myocardial hypertrophy | Hypertrophic cardiomyopathy | |
Best gross motor milestone (age obtained in months) | Walk (15 → lost at 26) | Walk (20 → lost at 24) | Walk (14) | walk (13 → lost at 33) | stand with support (15) | MHC (4) | |
LVEdD (Z score>2) at baseline, age (mo) | ✖ | ✓, 24 | ✖ | ✓, 5 | ✓, 1 | ✓,4 | |
Age at first admission to our hospital (mo) | 32 | 24 | 49 | 34 | 3 | 4 | |
Weight at admission (kg) | 10 (−2.2SD) | 9 (−3.0SD) | 12 (−2.2SD) | 12 (−1.8SD) | 5.2 (−2.0SD) | 6.5 (−1.3SD) | |
Height at admission (cm) | 87 (−1.6SD) | 90 (−1SD) | 95 (−2.3SD) | 94 (−0.3SD) | 58 (− 1.6SD) | 63 (−0.6SD) | |
BMI at admission (kg/m2) | 13.2 | 11.1 | 13.2 | 13.5 | 15.4 | 16.3 | |
Dysphagia at baseline | ✖ | ✖ | ✖ | ✖ | ✓ | ✓ | |
Feeding pattern, nutrient type during hospitalization | NGT, peptamen | NGT,peptamen | Oral feeding, Normal diet | NGT,peptamen | NGT,formula milk | NGT,formula milk | |
Total calories (kcal/kg/day) | 120–135 | 90–120 | 70–80 | 70–100 | 100–136 | 100–110 | |
Rate of proteins with diet | 12% | 12% | 10% | 12% | 15% | 15% | |
Age of final diagnosis (mo) | 31†| 25†| 49 | 7†| 2†| 5 | |
Age of ERT intiation (mo) | 32 | 31 | 56 | 34 | 3 | 5 | |
Symptoms before starting ERT | Bed-ridden, muscle weakness of limbs, 24-h invasive ventilation | Bed-ridden, muscle weakness of limbs, 24-h invasive ventilation | Serious fatigue after exercises | Bed-ridden, myocardial hypertrophy, muscle weakness of limbs, 24-h invasive ventilation | Respiratory failure, 24-h invasive ventilation | Hypertrophic cardiomyopathy, respiratory failure, 24-h invasive ventilation | |
ERT Duration (mo, 20 mg/kg qow) | 15.5 | 4.5 | 2 | 2.5 | 17 | 2 | |
CRIM status | NT | NT | NT | NT | NT | NT | |
Age (mo); follow up status | 72mo, wheelchair, tracheal intubation, 24-h mechanical ventilation | 48mo, wheelchair, Weaned from the ventilator | 96mo, went to school normally, physical exercise intolerable | 36mo, died after abandoning treatment | 21mo, walk independently, delayed gross motor skills | 7mo, died after abandoning treatment | |
GAA activity in PBLCb | 0.90 | 1.45 | 1.03 | 8.20 | 0.00 | 2.86 | |
Genotypec | c.1082C>T,c.1935C>A (both potentially less severe) | c.1216G>A (unknow),c.1935C>A (potentially less severe) | c.1216G>A (unknow),c.1935C>A (potentially less severe) | c.1557G>A (unknown), c.1978C>T (potentially less severe) | homozygotic mutation of c.1935C>A (potentially less severe) | c.1822C>T (very severe), c.1935C>A (potentially less severe) | |
Age of initial MV (mo),Duration of IV (NIV) (mo) | 30,36 (0.4) | 23,1 (0)a | 47,1 (0)a | 31,5 (0) | 3,3.5 (0.6) | 5,2 (0.1) | |
Age of MV for the second time (mo),Duration of IV (NIV) (mo) | NA | 30,2.5 (4) | 72,1 (3)a | NA | 15,1 (0.4) | NA | |
Trachcostomy (Yes/No) | Yesd | No | No | No | No | No | |
ABG pre-ventilation/worst | PH | 7.16 | 7.13 | 7.33 | 7.22 | 7.27 | 7.33 |
PO2 (mmHg) | 84 | 88 | 65 | 74 | 39 | 808 | |
PCO2 (mmHg) | 111 | 98 | 80 | 84 | 93 | 85 | |
ABG on discharge/in the recovery phase | PH | 7.39 | 7.48 | 7.41 | 7.42 | 7.35 | 7.44 |
PO2 (mmHg) | 80 | 62 | 93 | 97 | 72 | 89 | |
PCO2 (mmHg) | 55 | 39 | 47 | 50 | 59 | 50 |