検査と技術38巻8号

2010年08月発行

病気のはなし

糖原病Ⅱ型(ポンペ病，ライソゾーム病)

著者： 衞藤義勝¹

所属機関： ¹東京慈恵会医科大学遺伝病研究講座

ページ範囲：P.588 - P.594

サマリー

　ポンペ病(Pompe disease)は1932年ポンペにより報告された^1）ライソゾーム病の一つであり，酸性α-グルコシダーゼ(acid alpha glucosidase，GAA)の遺伝的酵素欠損により発症する．臨床的には乳児型と小児・成人型(遅発型)に分類される．乳児型は乳児期早期に心拡大，心不全で2歳までに死亡する．遅発型では筋力低下，歩行障害，呼吸障害を呈し，最後は呼吸不全で死亡する重篤な疾患である．遺伝形式は常染色体劣性遺伝形式をとる．酵素補充療法が開発され，早期治療により症状の悪化を予防できる．ただし，酵素に対する抗体産生は治療効果を減弱することから，抗体に対する治療も試みられている^2）．

参考文献

1) Pompe JC:Over idiopathische hypertrofie van het hart. Nederlands tijdschrift voor geneeskunde　76：304-311，1932

2) Hirschhorn R:Glycogen storage disease type II:acid alpha-glucosidase (acid maltase) deficiency. Scriver CR, Beaudet AL, Sly W, et al (eds):The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York，pp2443-2464，1995

3) Hers HG:Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease). Biochem J　86：11，1963

4) Raben N, Plotz P, Byrne BJ:Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr Mol Med　2：145-166，2002

5) Engel AG, Seybold ME, Lambert EH, et al:Acid maltase deficiency:Comparison of infantile, childhood, and adult types. Neurology　20：382，1970

6) Martiniuk F, Mehler M, Pellicer A, et al:Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc Natl Acad Sci USA　83：9641-9644，1986

7) Martiniuk F, Bodkin M, Tzall S, et al:Isolation and partial characterization of the structural gene for human acid alpha glucosidase. DNA Cell Biol　10：283-292，1991

8) Kroos M, Pomponio RJ, van Vliet L, et al:Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat　29：E13-26，2008

9) Joshi PR, Glaser D, Schmidt S, et al:Molecular diagnosis of German patients with late-onset glycogen storage disease type II. J Inherit Metab Dis (Epub)，2008

10) Hirschhorn R, Reuser AJ:Glycogen storage disease type II:acid alpha-glucosidase (acid maltase) deficiency. Scriver CR, Beaudet AL, Sly WS, et al (eds):The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill, New York，pp3389-3420，2001

11) Zellweger H, Brown BI, McCormick WF, et al:A mild form of muscular glycogenosis in two brothers with alpha-1,4-glucosidase deficiency. Ann Pediatr　205：413-437，1965

12) Hudgson P, Gardner-Medwin D, Worsfold M, et al:Adult myopathy from glycogen storage disease due to acid maltase deficiency. Brain　91：435-462，1968

13) Swaiman K, Kennedy WR, Sauls HS:Late infantile acid maltase deficiency. Arch Neurol　18：642-648，1968

14) 糖原病II型(ポンペ病)ガイドライン編集委員会：ポンペ病診断治療ガイドライン，日本ポンペ病研究会，2007

15) Kishnani PS, Corzo D, Leslie ND, et al:Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res　66：329-335，2009

16) Klinge L, Straub V, Neudorf U, et al:Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease:results of a phase II clinical trial. Neuromuscul Disord　15：24-31，2005

17) van den Hout JM, Kamphoven JH, Winkel LP, et al:Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics　113：e448-457，2004

18) van der Ploeg AT, Reuser AJ:Pompe's disease. Lancet　372：1342-1353，2008

19) Case LE, Koeberl DD, Young SP, et al:Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease:a case study. Mol Genet Metab　95：233-235，2008

20) Kishnani PS, Goldenberg PC, DeArmey SL, et al:Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab　99：26-33，2010

21) Sun B, Bird A, Young SP, et al:Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. Am J Hum Genet　81：1042-1049，2007

22) Joseph A, Munroe K, Housman M, et al:Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model. Clin Exp Immunol　152：138-146，2008

23) Parenti G, Zuppaldi A, Gabriela Pittis M, et al:Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther　15：508-514，2007

24) Okumiya T, Kroos MA, Vliet LV, et al:Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Mol Genet Metab　90：49-57，2007

25) Sun B, Zhang H, Franco LM, et al:Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther　11：889-898，2005

26) Ziegler RJ, Bercury SD, Fidler J, et al:Ability of adeno-associated virus serotype 8-mediated hepatic expression of acid alpha-glucosidase to correct the biochemical and motor function deficits of presymptomatic and symptomatic Pompe mice. Hum Gene Ther　19：609-621，2008

27) Sun B, Young SP, Li P, et al:Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy. Mol Ther　16：1366-1371，2008

28) Kemper AR, Hwu WL, Lloyd-Puryear M, et al:Newborn screening for Pompe disease:synthesis of the evidence and development of screening recommendations. Pediatrics　120：e1327-1334，2007

29) Dajnoki A, Muhl A, Fekete G, et al:Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem　54：1624-1629，2008

30) Martiniuk F, Mehler M, Pellicer A, et al:Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients. Proc Natl Acad Sci USA　83：9641-9644，1986