Консенсусный документ по актуальным вопросам диагностики болезни Помпе

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  1. Клинические рекомендации «Болезнь Помпе». 2019. Доступно по: https://cr.minzdrav.gov.ru/recomend/317_1. (In Russ.).
  2. Diaz-Manera J., Kishnani P.S., Kushlaf H. et al. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): A phase 3, randomised, multicentre trial. Lancet Neurol 2021;20(12):1012–26. doi: 10.1016/S1474-4422(21)00241-6
  3. Chien Y.H., Goldstein J.L., Hwu W-L. et al. Baseline urinary glucose tetrasaccharide concentrations in patients with infantileand late-onset Pompe disease identified by newborn screening. JIMD Rep 2015;19:67–73. doi: 10.1007/8904_2014_366
  4. Gragnaniello V., Pijnappel P.W.W.M., Burlina A.P. et al. Newborn screening for Pompe disease in Italy: Long-term results and future challenges. Molec Genet Metab Rep 2022;33:100929. doi: 10.1016/j.ymgmr.2022.100929
  5. Burton B.K., Charrow J., Hoganson G.E. et al. Newborn screening for Pompe dsease in Illinois: Experience with 684,290 infants. Int J Neonatal Screen 2020;6(1):4. doi: 10.3390/ijns6010004
  6. Manwaring V., Prunty H., Bainbridge K. et al. Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases. J Inherit Metab Dis 2012;35:311–6. doi: 10.1007/s10545-011-9360-2
  7. Piraud M., Pettazzoni M., De Antonio M. et al. Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort. Molec Genet Metab Rep 2020;23:100583. doi: 10.1016/j.ymgmr.2020.100583
  8. Molares-Vila A., Corbalán-Rivas A., Carnero-Gregorio М. et al. Biomarkers in glycogen storage diseases: An update. Int J Mol Sci 2021;22(9):4381. doi: 10.3390/ijms22094381
  9. Saville J.T., Fuller M. Experience with the urinary tetrasaccharide metabolite for Pompe disease in the diagnostic laboratory. Metabolites 202;11(7):446–57. doi: 10.3390/metabo11070446
  10. Nam Y., Lee K., Jun S.-H. et al. Evaluation of the urinary glucose tetrasaccharide assay using ultra-performance liquid chromatography-tandem mass spectrometry for diagnosis of Pompe disease. Lab Med Online 2015;5:211–4. doi: 10.3343/lmo.2015.5.4.211
  11. Canbay E., Viral M., Uçar S.L. et al. The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population. J Pediatr Endocrinol Metab 2020;33(3):391–5. doi: 10.1515/jpem-2019-0393
  12. Kumlien J., Chester M.A., Lindberg B.S. et al. Urinary excretion of a glucose-containing tetrasaccharide. A parameter for increased degradation of glycogen. Clin Chim Acta 1988;176:39–48. doi: 10.1016/0009-8981(88)90172-6
  13. Young S.P., Zhang H., Corzo D. et al. Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. Genet Med 2009;11:536–41. doi: 10.1097/GIM.0b013e3181a87867
  14. Young S.P., Piraud M., Goldstein J.L. et al. Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet C Semin Med Genet 2012;160C:50–8. doi: 10.1002/ajmg.c.31320
  15. Савостьянов К.В., Никитин С.С., Карпачёва К.Е. Лабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапии. Нервно-мышечные болезни 2016;6(1):54–62. doi: 10.17650/2222-8721-2016-6-1-54-62
  16. Parisi D., Musumeci O., Mondello S. et al. Vacuolated PAS-positive lymphocytes on blood smear: An easy screening tool and a possible biomarker for monitoring therapeutic responses in late onset Pompe disease (LOPD). Front Neurol 2018;9:880. doi: 10.3389/fneur.2018.00880
  17. Ann Y., Young S.P., Kishnani P.S. et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 2005;85:247–54. doi: 10.1016/j.ymgme.2005.03.010

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