[Clinical observation on human alpha glucosidase in treatment of five patients with glycogen storage disease Ⅱ].
Objective:To evaluate the effect of enzyme replacement therapy (ERT) on glycogen storage disease typeⅡ(GSDⅡ).Method:The clinical data of three juvenile onset and two infant onset GSDⅡpatients were collected from First Affiliated Hospital of Sun Yat-sen University in October 2015 to July 2016.Patient 1 was female, the age of onset was 15 months. Patient 2 was male, the age of onset was 20 months. Patient 3 was female, the sister of patient 2, the age of onset was 47 months. Patient 4 was male, the age of onset was 5 months. Patient 5 was male, the age of onset was 1 month.The age at the start of ERT of the 5 patients was 32, 31, 56, 34, and 3 months respectively and the duration of ERT was 19, 9, 4, 5, 5 doses respectively.ERT was administered at 20 mg/kg every 2 weeks.Dexamethasone was regularly given before each infusion.Result:ERT was well tolerated, only one time, Patient 1 developed tachycardia and hypertension without using dexamethasone.Patient 2 underwent successfully ventilator weaning.Patient 1 underwent a tracheotomy, also needed mechanical ventilation treatment.Patient 4 noninvasive ventilation was tried.Conclusion:Recombinant human alpha-glucosidase treatment was effective and well tolerated in patients with GSDⅡ.
Pediatric Intensive Care Unit, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.
L L
LL
Xu
L D
LD
Zhang
Y J
YJ
Liang
W
W
Tang
X Q
XQ
Huang
Y X
YX
Pei
Y C
YC
Cheng
H M
HM
Huang
C
C
Zhang
D056947:Enzyme Replacement Therapy; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy*; D006801:Humans; D007223:Infant; D008297:Male; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000627:therapeutic use*
D000520:alpha-Glucosidases