Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan

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Abstract

Pompe disease is a hereditary autosomal recessive disease characterized by accumulation of glycogen due to decreased activity of acid α-glucosidase enzyme in lysosomes. The disease can develop at any age. Cases with onset after the 1st year of life are attributed to late-onset Pompe disease (LOPD). LOPD has a very wide age range when clinical manifestations appear which significantly complicates diagnosis in adults. A case of verified Pompe disease in the Republic of Kazakhstan is presented. A chronology of clinical manifestations and symptoms, results of paraclinical examinations helping to suspect LOPD and verify the diagnosis by decreased activity of acid α-glucosidase in dry blood spot are described.

About the authors

L. A. Kuzina

League of Neurologists – Scientific and Practical Center Smagul Kaishibayev Institute of Neurology

Author for correspondence.
Email: k_luba@inbox.ru
ORCID iD: 0000-0001-9271-5027
Kazakhstan

G. S. Kaishibayeva

League of Neurologists – Scientific and Practical Center Smagul Kaishibayev Institute of Neurology

Email: fake@neicon.ru
ORCID iD: 0000-0002-3431-7300
Kazakhstan

References

  1. Nikitin S.S., Kovalchuk M.O., Zaharova E.U., Tsivileva V.V. Late-onset Pompe disease: first clinical description in Russia. Nervno-myshechnye bolezni = Neuromuscular Diseases 2014;(1):62–8. (In Russ.)
  2. Klushnikov S.A., Zagorovskaya T.B., Kurbatov S.A. et al. A clinical case of late-onset Pompe disease. Nervnye bolezni = Neural Diseases 2015;(2):38–43. (In Russ.)
  3. Kurbatov S.A., Nikitin S.S., Zakharova E.Yu. Late-onset Pompe disease with phenotype of the limbgirdle muscular dystrophy. Nervnomyshechnye bolezni = Neuromuscular Diseases 2015;(3):62–7. (In Russ.)
  4. Nikitin S.S., Kovalchuk M.O., Proskurina E.A., Khoroshaya I.V. First case of late-onset glycogen storage disease type II in Russia with a novel mutation. J Neuromuscul Dis 2015;2(s1):S26. doi: 10.3233/JND-159024. PMID: 27858622.
  5. Ünver O., Hacıfazlıoğlu N.E., Karatoprak E. et al. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: a multicenter study. Neuromuscul Disord 2016;26(11):796–800. doi: 10.1016/j.nmd.2016.09.001. PMID: 27666774.
  6. Lukacs Z., Nieves Cobos P., Wenninger S. et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016;87(3):295–8. DOI: 10.1212/ WNL.0000000000002758. PMID: 27170567.
  7. Nikitin S.S. Asymptomatic elevation of creatine kinase in neuromuscular disease. Nevrologicheskiy zhurnal = The Neurological Journal 2015;20(5):26–33. (In Russ.)
  8. Patwa H.S., Chaudhry V., Katzberg H. et al. Evidence-based guideline: intravenous immunoglobulin in the treatment of neuromuscular disorders: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology 2012;78(13): 1009–15. DOI: 10.1212/ WNL.0b013e31824de293. PMID: 22454268.
  9. Güngör D., Schober A.K., Kruijshaar M.A. et al. Pain in adult patients with Pompe disease. A cross-sectional survey. Mol Genet Metab 2013;109(4):371–6. DOI: 10.1016/j. ymgme.2013.05.021. PMID: 23849261.
  10. Carlier R.Y., Laforet P., Wary C. et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord 2011;21(11):791–9. DOI: 10.1016/j. nmd.2011.06.748. PMID: 21803581.
  11. Lollert A., Stihl C., Hötker A.M. et al. Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy. PLoS One 2018;13(1):e0190784. doi: 10.1371/journal.pone.0190784. PMID: 29315315.
  12. Bertoldo F., Zappini F., Brigo M. et al. Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab 2015;100(2):401–6. doi: 10.1210/jc.2014-2763. PMID: 25396301.
  13. Chu Y.P., Sheng B., Lau K.K. et al. Clinical manifestation of late onset Pompe disease patients in Hong Kong. Neuromuscul Disord 2016;26(12):873–9. DOI: 10.1016/j. nmd.2016.09.004. PMID: 27692865.
  14. Toscano A., Montagnese F., Musumeci O. Early is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD). Acta Myol 2013;32(2):78–81. PMID: 24399862.
  15. Arslan A., Poyrazoğlu H.G., Kiraz A. et al. Combination of two different homozygote mutations in Pompe disease. Pediatr Int 2016;58(3):241–3. DOI: 10.1111/ ped.12873. PMID: 26946079.
  16. Nikitin S.S., Kurbatov S.A., Bredelev V.A., Kovalchuk M.O. Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 2015;115(12):19–24. (In Russ.)
  17. Nikitin S.S., Kutsev S.I., Basargina E.N. et al. Clinical Practice Guidelines for delivery of healthcare to patients with Pompe disease. Nervno-myshechnye bolezni = Neuromuscular Diseases 2016;6(1):11–43. (In Russ.)
  18. Savost’yanov K.V., Nikitin S.S., Karpacheva K.E. Laboratory studies and Pompe disease: from suspicion to therapy monitoringNervno-myshechnye bolezni = Neuromuscular Diseases 2016;6(1):54–62. (In Russ.)
  19. Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8(5):267–88. DOI: 10.109701.gim.0000218152.87434.f3. PMID: 16702877

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Copyright (c) 2018 Kuzina L.A., Kaishibayeva G.S.

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