Table 2.
Summary of clinical status over 6 years of enzyme replacement therapy.
| Clinical status over 6 yr of ERT | ||
|---|---|---|
| Age at 6 yr of ERT | 7 yr 8 mo | 6 yr 1 mo |
| Respiration | ||
| Status | Ambient air | Ambient air |
| Respiratory support end* | Month 54 of treatment | Day 57 of treatment |
| Feeding | Gastrostomy | Oral feeding |
| Gross motor development | ||
| K-DST | 0 (The 71-mo test was used) |
15 (−2 SDS cut off point 16) (the 71-month test was used) |
| Bleck score | 0 | 9 |
| 6-minute walking test | Not able to perform | 327.2 m |
| Dental status (number of primary teeth with premature exfoliation) |
13 | 10 |
| 8 incisors | 7 incisors | |
| 2 canines | 2 canines | |
| 3 molars | 1 molar | |
| Complications and adverse events during ERT | ||
| Respiratory disorder† | 2 pneumonia events 1 severe desaturation event |
No |
| Seizure | No | No seizure after 1st episode |
| Cranoisynostosis | No | No |
| Nephrocalcinosis | 1 ureter stone event Calyceal stones on US |
Mild medullary nephrocalcinosis on US |
| Adverse events | 1 local redness and swelling at the injection site | No |
ERT = enzyme replacement therapy, K-DST = Korean Developmental Screening Test, SDS = standard deviation score, US = ultrasonography.
* Respiratory support includes mechanical support during hospitalization, home ventilator use, and simple oxygen supply. † In Patient 1, no hospitalization due to respiratory disorder exceeded 5 days. There was no respiratory complication requiring hospitalization after week 22 of treatment.