Glycogen Storage Disease Type II Glycogen Storage Disease ...

1 Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp Dise ase ). Diag nosis and M. Diagnosis Management anage me nt G uideline u id e line f or Japanese J apane se .. E N MEDIX .. 3.. 5. 2006 ACMG American College of Medical Genetics . 7. 1 .. 9. ERT 11. 1 13.. 2 15.. 3 17.. 4 19.. 21. 22.. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt . 1 G uidel u id e line ine f or Japanese J apan e se .. AMD 1 .. - GAA 2 . 2.. 3 4 .. 5-7 . JC Pompe 1932 8 . 12 .. 9 10 .. 2 .. 6 12 . 2 . 10 60 .. 29 . 11 . 3 . 10 1/138,000 12 . 1/40,000 . 14,000 300,000 1 3 12 13 . 1 AMD Acid Maltase De ciency.

2 2 GAA acid alpha-glucosidase ;. - . 3 4. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt G uidel u id e line ine f or Japanese J apan e se .. CK 1 .. 8 10 . CT CK CT CK . 1.. GAA 2 GAA 2 . GAA GAA .. Yes No Yes No .. ERT ERT . 3 3. 11 . 11 .. 3 6 3 6 .. 1 CK creatine kinase ; . 2 GAA acid alpha-glucosidase ;. - . 3 ERT Enzyme Replacement Therapy ; .. 5 6. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt G uidel u id e line ine f or Japanese J apan e se .. QRS . BNP 1 .. CK 4 . CT . GAA . 2. P PR QRS .. BNP 1 AST GOT ALT GPT.

3 GAA .. GAA .. GAA 2 PAS 5).. GAA .. Werdnig-Ho mann CK . CK .. CK . 1 BNP brain natriuretic peptide ;. ERT 3 CK . 2 GAA acid alpha-glucosidase ; .. CK . 14 . - .. 3 ERT Enzyme Replacement Therapy ; CK .. 4 CK creatine kinase ; . 5 PAS Periodic acid Schi stain ; .. 7 8. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt G uidel u id e line ine f or Japanese J apan e se .. CK 1 CK 1 .. CT . CK .. 15 . CT .. GAA 2 .. GAA . GAA 2 PAS 4 .. GAA .. GAA .. LGMD 5 / .. 1 CK creatine kinase ; .. CK 14 CK . BMD . 6. 2 GAA acid alpha-glucosidase ;.. - . Danon . 3 ERT Enzyme Replacement Therapy.

4 4 PAS Periodic acid Schi stain ; .. ERT 3 . 5 LGMD Limb-Girdle type Muscular Dystrophy ; CK .. 6 BMD : Becker type Muscular Dystrophy ; .. 9 10. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt E R T . 1 G uidel u id e line ine f or Japanese J apan e se ERT . ERT . ERT . 5 7 9 .. HP . ERT.. 16 .. ERT . 1 .. kg 20mg .. ERT .. ERT . 1 .. Kaplan-Meier . 18 Kaplan-Meier . 3 6 .. 100. 20mg/kg 40mg/kg . 52 . 80. Kaplan-Meier 18 . ERT .. 100 . 60.. 95 . 40.. 61 .. 99 . p< . 20.. 0 . 0 5 10 15 20.. 1 18 . 44 . Kishnani PS et al., : Neurology 68 (2) 99-109, 2007.. 18 .. 8. 20mg/kg 40mg/kg . 52 6.

5 Z . 4.. 2 g/ 2 2. Z .. 0. -2. BaseLine 4 8 12 26 38 52.. 1 ERT Enzyme Replacement Therapy ;. Kishnani PS et al., : Neurology 68 (2) 99-109, 2007. 11 12. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt . 1 G uidel u id e line ine f or Japanese J apan e se .. 1 . X .. X-P .. +.. 24 . ERT 1 .. 40 50% .. NIV 2 .. X .. 5L/sec .. ST . 1 ERT Enzyme Replacement Therapy ;.. 2 NIV : noninvasive ventilation ; . 13 14. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt . 2 G uidel u id e line ine f or Japanese J apan e se.

6 1 .. DEXA 1 . DEXA .. CT 15 17 . CT 4 . low density area . high density area . ERT .. 1 DEXA Dual Energy X-ray Absorptiometry ; . X . 2 ERT : Enzyme Replacement Therapy ; .. 15 16. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ). Diag nosis and M. Diagnosis Management anage me nt . 3 G uidel u id e line ine f or Japanese J apan e se .. 1 . 5 3 6 5 1 .. ERT 1 Needle EMG .. OAE 2 ABR 3 BAER 4 .. ERT 1 . MRI 18 .. 1 ERT Enzyme Replacement Therapy ;.. 2 OAE : Otoacoustic Emission ; . 3 ABR : Auditory Brainstem Response ; .. 4 BAER : Brainstem Auditory Evoked Response ;.. 17 18. Glycogen Storage Disease Type II I. ( Pomp e Disease ). (Pomp D ise ase ).

7 Diag nosis and M. Diagnosis Management anage me nt 4 G uidel u id e line ine f or Japanese J apan e se .. 1 .. 25%.. - .. 21 .. 1 . 2 .. 1 ERT Enzyme Replacement Therapy ; .. 2 ADL Activities of Daily Living ; . 19 20.. 1 ACMG Work Group on Management of Pompe Disease : Kishnani PS et al. Pompe Disease diagnosis and management guideline. Genetics IN. Medicine 2006; 8 (5): 267-288. 2 Hers HG. alpha-Glucosidase de ciency in generalized Glycogen - Storage Disease (Pompe's Disease ). Biochem J 1963; 86: 11-16.. 3 Hirschhorn R, Reuser AJJ. Glycogen Storage Disease type II: acid TEL HP alpha-glucosidase (acid maltase) de ciency. In: Scriver CR, et al. eds. The Metabolic and Molecular Bases of Inherited Disease .

8 8th ed. 105-8461 3-25-8 03-3433-1111 NewYork: McGraw-Hill, 2001: 3389-3420. 4 Kishnani PS, Howell RR. Pompe Disease in infants and children. J. 162-8666 8-1 03-3353-8111 RinshoKouza/041/ Pediatr 2004; 144: S35-S43. 5 Engel AG, et al. The spectrum and diagnosis of acid maltase de ciency. Neurology 1973; 23(1): 95-106. 683-8503 86 0859-33-1111 gakka/noukan/syouni/. 6 .. 2003; 35: 398-400. / 157-8535 2-10-1 03-3416-0181 7 Pompe . 2006; 69(11): 1743-1747. 349-0196 4147 048-768-1161 esaitama/ 8 Pompe JC. Over idiopatische hypertrophie van het hart. Ned Tijdschr Geneeskd 1932; 76: 304-311. 545-8585 1-5-7 06-6645-3816 9 van den Hout HM, et al. The natural course of infantile Pompe's Disease : 20 original cases compared with 133 cases from the literature.

9 113-8655 7-3-1 03-3815-5411 Pediatrics 2003; 112(2): 332-340. 10 Kishnani PS, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe Disease . J Pediatr 2006;. 558-8558 3-1-56 06-6692-1201 148(5): 671-676. 11 . 963-8563 7 115 024-934-5322 13 .. 14 3 :10-11. 187-8551 4-1-1 042-341-2711 12 Ausems MG, et al. Frequency of Glycogen Storage Disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J.. Hum Genet 1999; 7(6): 713-716. 13 Martiniuk F, et al. Carrier frequency for Glycogen Storage Disease type II. in New York and estimates of a ected individuals born with the TEL FAX Disease .

10 Am J Med Genet 1998; 79(1): 69-72. 14 . 03-3433-1230. DNA 105-8461 3-25-8 03-3433-1111 2003; 43(5): / FAX 243-248. 15 Arai Y, Osawa M, et al. Computed tomography and magnetic resonance . imaging of a ected muscle in childhood acid alpha-glucosidase 545-8585 1-5-7 06-6645-3816 06-6636-8737. de ciency: a case report. Brain Dev 1993; 15(2): 147-152.. 16 Kishnani PS, et al. Recombinant human acid [alpha]-glucosidase: major . 329-0498 clinical bene ts in infantile-onset Pompe Disease . Neurology 2007;. 0285-58-7366 0285-44-6123 68(2): 99-109. 3311 1. 17 1993; 11(11): 1311-1319. 18 Chien YH, et al. Brain development in infantile-onset Pompe Disease 683-8503 86 0859-38-6472 0859-38-6470 treated by enzyme replacement therapy.