Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease

详细信息    查看全文

• 作者：Marieke Hoeksma (1)
  Maartje Boon (2)
  Klary E Niezen-Koning (3)
  Lidy van Overbeek-van Gils (4)
  Francjan J van Spronsen (1)
  
• 关键词：Glycogen storage disease type II ; Pompe disease ; Acid alpha ; glucosidase ; Asymptomatic patients
• 刊名：European Journal of Pediatrics
• 出版年：2007
• 出版时间：August 2007
• 年：2007
• 卷：166
• 期：8
• 页码：871-874
• 全文大小：90KB
• 参考文献：1. Ausems MGEM, Verbiest J, Hermans MMP, Kroos MA, Beemer FA, Wokke JHJ, Sandkuijl LA, Reuser AJJ, van der Ploeg AT (1999) Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J Hum Genet 7:713-16 CrossRef
  2. Ausems MGEM, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJJ, Wokke JHJ (1999) A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 52:851-53
  3. Ausems MGEM, ten Berg K, Beemer FA, Wokke JHJ (2000) Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families. Neuromuscul Disord 10:467-71 CrossRef
  4. Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C (2004) Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin Chim Acta 347:97-02 CrossRef
  5. Danon MJ, DiMauro S, Archer FL, Miranda AF (1986) Juvenile-onset acid maltase deficiency with unusual familial features. Neurology 36:818-22
  6. Felice KJ, Alessi AG, Grunnet ML (1995) Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature. Medicine 74:131-35 CrossRef
  7. Hagemans MLC, Winkel LPF, van Doorn PA, Hop WJC, Loonen MCB, Reuser AJJ, van der Ploeg AT (2005) Clinical manifestations and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain 128:671-77 CrossRef
  8. Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver CR, Beaudet A, Sly WS, Valle D (eds) The metabolic and molecular base of inherited disease, 8th edn. McGraw-Hill, New York, pp 3389-420
  9. Huie ML, Chen AS, Tsujino S, Shanske S, DiMauro S, Engel AG, Hirschhorn R (1994) Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1(?3T→G) mutation in a majority of patients and a novel IVS10(+1GT→CT) mutation. Hum Mol Genet 3:2231-236 CrossRef
  10. Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Gorlinger K, Wallot M, Richards S, Voit T (2005) 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 15:24-1 CrossRef
  11. Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ, Van den Boogaard MJ, Ausems MGEM, Ploos van Amstel HK, Poenaru L, Nicolino M, Wevers R (1995) Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J Med Genet 32:836-37 CrossRef
  12. Morse RP, Rosman NP (1992) Diagnosis of occult muscular dystrophy:importance of the “chance-finding of elevated serum aminotransferase activities. J Pediatr 122:254-56
  13. Nathwani RA, Pais S, Reynolds TB, Kaplowitz N (2005) Serum alanine aminotransferase in skeletal muscle diseases. Hepatology 41:380-82 CrossRef
  14. Pavic M, Petiot P, Streichenberger N, Dupond JL, Drouet A, Flocard F, Bouhou F, Colin J, Bielefeld YP, Gouttard M, Maire I, Pellat J, Vital Durand D, Rousset H (2003) Analysis of 12 cases of Mc Ardle’s disease diagnosed after 30?years. Rev Med Interne 24:716-20 CrossRef
  15. Schwarz KB, Burris GC, deMello DE, Hyams JS, Biller JA, Maksimak MG, Winter HS, Grand RJ (1984) Prolonged elevation of transaminase concentration in children with unsuspected myopathy. Am J Dis Child 138:1121-124
  16. Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, Hopwood JJ, Meikle PJ (2000) Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 46:1318-325
  17. Umapathysivam K, Hopwood JJ, Meikle PJ (2001) Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 47:1378-383
  18. Van den Hout HMP, Hop W, van Diggelen OP, Smeitink JAM, Smit GPA, Poll-The BTT, Bakker HD, Loonen MCB, de Klerk JBC, Reuser AJJ, van der Ploeg AT (2003) The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112:332-40 CrossRef
  19. Van den Hout JMP, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT (2004) Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113:e448–e457 CrossRef
  20. Winkel LPF, van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, van Doorn PA, de Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, van der Ploeg AT (2004) Enzyme replacement therapy in late-onset Pompe’s disease: a three year follow-up. Ann Neurol 55:495-02 CrossRef
  21. Winkel LPF, Hagemans MLC, van Doorn PA, Loonen MCB, Hop WJC, Reuser AJJ, van der Ploeg AT (2005) The natural course of Pompe’s disease; a review of 225 published cases. J Neurol 252:875-84 CrossRef
  22. Wokke JHJ, Ausems MGEM, van den Boogaard MJH, Ippel EF, van Diggelen O, Kroos MA, Boer M, Jennekens FGI, Reuser AJJ, Ploos van Amstel HK (1995) Genotype-Phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol 38:450-45 CrossRef
  
• 作者单位：Marieke Hoeksma (1)
  Maartje Boon (2)
  Klary E Niezen-Koning (3)
  Lidy van Overbeek-van Gils (4)
  Francjan J van Spronsen (1)
  
  1. Section of Metabolic Diseases, Department of Paediatrics, Beatrix Children’s Hospital, University Medical Centre Groningen, P.O. box 30.001, 9700 RB, Groningen, The Netherlands
  2. Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
  3. Laboratory of Metabolic Diseases, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
  4. Department of Paediatrics, Scheper Hospital, Emmen, The Netherlands
  

文摘

An asymptomatic boy, aged 1.5?years, was referred with presumed liver disease because of persistently increased transaminase. Ultimately Pompe disease was confirmed, without specific abnormalities in muscle biopsy. This case demonstrates that increased transaminases do not always suggest liver disease. It is hard to determine prognosis and to decide whether enzyme replacement therapy should be started in asymptomatic patients with Pompe disease.