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Нервно-мышечные болезни

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Лабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапии


https://doi.org/10.17650/2222-8721-2016-6-1-54-62

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Аннотация

Болезнь Помпе (БП) – редкое, прогрессирующее, часто фатальное наследственное аутосомно-рецессивное заболевание, диагностика которого затруднена высокой гетерогенностью клинических проявлений и низкой осведомленностью врачей. Доступность лабораторной диагностики редких болезней растет с каждым годом, и БП не является исключением. Лаборатории России и мира за последние несколько лет достигли значительных успехов в ускорении и увеличении точности диагностики БП. К сожалению, в русскоязычной литературе недостаточно актуальной информации о лабораторной диагностике БП. Данный обзор призван заполнить этот пробел. 

Об авторах

К. В. Савостьянов
Лаборатория молекулярной генетики и клеточной биологии ФГАУ «Научный центр здоровья детей» Минздрава России; Россия, 119991, Москва, Ломоносовский проспект, 2 стр. 1
Россия


С. С. Никитин
Региональная общественная организация «Общество специалистов по нервно-мышечным болезням», Медицинский центр «Практическая неврология»; Россия, 117218, Москва, ул. Кржижановского, 17, корп. 2;
Россия


К. Е. Карпачёва
Представительство АО «Санофи-авентис груп»; Россия, 125009, Москва, ул. Тверская, 22;
Россия


Список литературы

1. Никитин С.С., Ковальчук М.О., Захарова Е.Ю., Цивилева В.В. Болезнь Помпе с поздним началом: первое клиническое описание в России. Нервно-мышечные болезни 2014;(1):62–8. [Nikitin S.S., Koval’chuk М.О., Zakharovа Е.Yu., Tsivilevа V.V. Pompe disease with late onset: first clinical description in Russia. Nervno-myshechnye bolezni = Neuromuscular Diseases 2014;(1):62–8. (In Russ.)].

2. Kishnani P.S., Nicolino M., Voit T. et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 2006;149(1):89–97.

3. Ausems M.G., Lochman P., van Diggelen O.P. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999;52(4): 851–3.

4. Poorthuis B.J., Wevers R.A., Kleijer W.J. et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999;105(1–2):151–6.

5. Hopkins P.V., Campbell C., Klug T. et al. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr 2015;166(1):172–7.

6. Никитин С.С. Бессимптомная гиперкреатинкиназемия в клинике нейромышечных болезней. Неврологический журнал 2015;20(5): 26–33. [Nikitin S.S. Asymptomatic hypercreatinkinazemia in the clinic of neuromuscular diseases. Nevrologicheskiy zhurnal = Neurologic Journal 2015;20(5):26–33. (In Russ.)].

7. Laforêt P., Nicolino M., Eymard P.B. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000;55(8): 1122–8.

8. Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8(5):267–88.

9. Winkel L.P., Hagemans M.L., van Doorn P.A. et al. The natural course of nonclassic Pompe’s disease; a review of 225 published cases. J Neurol 2005;252(8):875–84.

10. van den Hout H.M., Hop W., van Diggelen O.P. et al. The Natural Course of Infantile Pompe’s Disease: 20 Original Cases compared with 133 cases from literature. Pediatrics 2003;112(2):332–40.

11. Beethmann M., Straub V., Reuser A. Pompe disease. Bremen: UNI–MED, 2014.

12. Gutiérrez-Rivas E., Bautista J., Vílchez J.J. et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. Neuromuscul Disod 2015;25(7):548–53.

13. Fardeau M., Desguerre I. Diagnostic workup for neuromuscular diseases. Handb Clin Neurol 2013;113:1291–7.

14. Huijgen H.J., Sanders G.T., Koster R.W. et al. The clinical value of lactate dehydrogenase in serum: a quantitative review. Eur J Clin Chem Clin Biochem 1997;35(8):569–79.

15. Pompe Disease Diagnostic Working Group, Winchester B., Bali D. et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 2008;93(3):275–81.

16. Castilhos C.D., Mezzalira J., Goldim M.P. et al. Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations. Gene 2014;536(2):344–7.

17. Kroos M., Hoogeveen-Westerveld M., Michelakakis H. et al. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat 2012; 33(8):1161–5.

18. http://www.erasmusmc.nl/klinische_ genetica/research/lijnen/pompe_center.

19. Houdayer C. In silico prediction of splice-affecting nucleotide variants. Methods Mol Biol 2011;760:269–81.

20. Hirschhorn R., Reuser A.J. The Metabolic and Molecular Bases of Inherited Disease. New-York: McGrawHill, 2001. Pp. 3389–420.

21. Jack R.M., Gordon C., Scott C.R. et al. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med 2006;8(5):307–12.

22. Kishnani P.S., Amartino H.M., Lindberg C. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Mol Genet Metab 2014; 113(1–2):84–91.

23. Engel A.G., Hirschhorn R., Huie M.L. Acid maltase deficiency. By eds.: A.G. Engel, C. Franzini-Armstrong. Myology. New York: McGraw-Hill, 2004. Pp. 1533–52.

24. van der Walt J.D., Swash M., Leake J., Cox E.L. The pattern of involvement of adult-onset acid maltase deficiency at autopsy. Muscle Nerve 1987;10(3): 272–81.

25. Müller-Felber W., Horvath R., Gempel K. et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disod 2007; 17(9–10):698–706.

26. Shin Y.S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol 2006;13(2):115–20.

27. Hansen B.F., Asp S., Kiens B., Richter E.A. Glycogen concentration in human skeletal muscle: effect of prolonged insulin and glucose infusion. Scand J Med Sci Sports 1999;9(4):209–13.

28. D’souza R. S., Levandowski C., Slavov D. et al. Danon disease: clinical features, evaluation, and management. Circ Heart Fail 2014;7(5):843–9.

29. Rozaklis T., Ramsay S.L., Whitfield P.D. et al. Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry. Clin Chem 2002;48(1):131–9.

30. Young S.P., Stevens R.D., An Y. et al. Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilutionelectrospray ionization tandem mass spectrometry. Anal Biochem 2003;316(2):175–80.

31. 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(2):311–6.

32. Sluiter W., van den Bosch J.C., Goudriaan D.A. Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clin Chem 2012;58(7):1139–47.

33. de Koning T.J., Jongbloed J.D., Sikkema-Raddatz B., Sinke R.J. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges. Expert Rev Mol Diagn 2015;15(1):61–70.

34. Bartoli M., Desvignes J.P., Nicolas L., Martin K. Exome sequencing as a secondtier diagnostic approach for clinically suspected dysferlinopathy patients. Muscle Nerve 2014;50(6):1007–10.

35. Seong M.W., Cho A., Park H.W. et al. Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience. Clin Genet 2015.

36. Dai Y., Wei X., Zhao Y. et al. A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. Neuromuscul Disord 2015;25(8): 617–24.

37. Краткий справочник невролога. Приложение к клиническим рекомендациям по неврологии Европейской федерации неврологических сообществ. М: ИД «АБВ-пресс», 2015. C. 448. [Brief Neurologist’s Reference Book. Exhibit to clinical recommendations in neurology of the EFNS. Мoscow: ABV-press, 2015. P. 448. (In Russ.)].

38. Bali D.S., Goldstein J.L., Banugaria S. et al. Predicting cross-reactive immunological material(CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C Semin Med Genet 2012;160;(1):40–9.

39. Kishnani P.S., Goldenberg P.C., DeArmey S.L. et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab 2010;99(1): 26–33.

40. Banugaria S.G., Prater S.N., Patel T.T. et al. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PLoS One 2013;8(6):e67052.

41. Bali D.S., Goldstein J.L., Rehder C. et al. Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease. Mol Genet Metab Rep 2015;5: 76–9.

42. Инструкция по медицинскому применению препарата «Майозайм». [Instruction of the medical application of Mayozaym substance.(InRuss.)].

43. 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(7):536–41.

44. Sluiter W., van den Bosch J.C., Goudriaan D.A. et al. Rapid ultraperformance liquid chromatographytandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clin Chem 2012;58(7):1139–47.

45. 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.

46. Bembi B., Cerini E., Danesino C. et al. Management and treatment of glycogenosis type II. Neurology 2008;71:12–36.

47. Мазанкова Л.Н., Котлукова Н.П., Сорока С.Г. и др. Трудности диагностики болезни Помпе у детей раннего возраста. Педиатрия 2005;(6):89–92. [Маzankovа L.M., Kotlukovа N.P., Sorokа S.G. et al. Difficulties in the diagnostics of Pompe disease at infants. Pediatriya = Pediatry 2005;(6):89–92. (In Russ.)].


Для цитирования:


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. https://doi.org/10.17650/2222-8721-2016-6-1-54-62

For citation:


Savost’yanov K.V., Nikitin S.S., Karpacheva K.E. Laboratory studies and Pompe disease: from suspicion to therapy monitoring. Neuromuscular Diseases. 2016;6(1):54-62. (In Russ.) https://doi.org/10.17650/2222-8721-2016-6-1-54-62

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