دورية أكاديمية
Laboratory studies and Pompe disease: from suspicion to therapy monitoring ; Лабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапии
| العنوان: | Laboratory studies and Pompe disease: from suspicion to therapy monitoring ; Лабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапии |
|---|---|
| المؤلفون: | K. V. Savost’yanov, S. S. Nikitin, K. E. Karpacheva, К. В. Савостьянов, С. С. Никитин, К. Е. Карпачёва |
| المصدر: | Neuromuscular Diseases; Том 6, № 1 (2016); 54-62 ; Нервно-мышечные болезни; Том 6, № 1 (2016); 54-62 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2016-6-1 |
| بيانات النشر: | ABV-Press |
| سنة النشر: | 2016 |
| المجموعة: | Neuromuscular Diseases (E-Journal) / Нервно-мышечные болезни |
| مصطلحات موضوعية: | орфанные болезни, limb-girdle muscular dystrophy, GAA gene, rare diseases laboratory diagnosis, glycogenesis type II, lysosomal storage diseases, next generation sequencing, creatine kinase, dry blood spot, cross-reactive immunological material, anti-α-glucosidase antibodies, orphan diseases, поясно-конечностная прогрессирующая мышечная дистрофия, ген GAA, лабораторная диагностика редких болезней, гликогеноз II типа, лизосомные болезни накопления, секвенирование нового поколения, креатинкиназа, сухое пятно крови, перекрестнореагирующий иммунологический материал, антитела к α-глюкозидазе |
| الوصف: | Pompe disease (PD) is a rare, progressive, commonly fatal inherited autosomal recessive disease that is difficult to diagnose due to its obvious clinical heterogeneity and low awareness among physicians. Access to the laboratory diagnosis of rare diseases increases every year. In the past several years, Russian and foreign laboratories have achieved considerable success in accelerating and improving the diagnostic accuracy of PD. Unfortunately, the Russian-language literature contains scarce relevant information on the laboratory diagnosis of PD. This review is to fill up this gap. ; 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | Russian |
| العلاقة: | https://nmb.abvpress.ru/jour/article/view/138/130Test; 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.)].; 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.; 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.; 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.; 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.; 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.)].; 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.; Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8(5):267–88.; 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.; 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.; Beethmann M., Straub V., Reuser A. Pompe disease. Bremen: UNI–MED, 2014.; 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.; Fardeau M., Desguerre I. Diagnostic workup for neuromuscular diseases. Handb Clin Neurol 2013;113:1291–7.; 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.; 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.; 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.; 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.; http://www.erasmusmc.nl/klinische_Test genetica/research/lijnen/pompe_center.; Houdayer C. In silico prediction of splice-affecting nucleotide variants. Methods Mol Biol 2011;760:269–81.; Hirschhorn R., Reuser A.J. The Metabolic and Molecular Bases of Inherited Disease. New-York: McGrawHill, 2001. Pp. 3389–420.; 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.; 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.; 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.; 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.; 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.; Shin Y.S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol 2006;13(2):115–20.; 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.; 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.; 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.; 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.; 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.; 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.; 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.; 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.; 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.; 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.; 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.)].; 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.; 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.; 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.; 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.; Инструкция по медицинскому применению препарата «Майозайм». [Instruction of the medical application of Mayozaym substance.(InRuss.)].; 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.; 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.; 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.; Bembi B., Cerini E., Danesino C. et al. Management and treatment of glycogenosis type II. Neurology 2008;71:12–36.; 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.)].; https://nmb.abvpress.ru/jour/article/view/138Test |
| DOI: | 10.17650/2222-8721-2016-6-1-54-62 |
| الإتاحة: | https://doi.org/10.17650/2222-8721-2016-6-1-54-62Test https://doi.org/10.17650/2222-8721-2016-6-1Test https://nmb.abvpress.ru/jour/article/view/138Test |
| حقوق: | Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). ; Авторы, публикующие в данном журнале, соглашаются со следующим:Авторы сохраняют за собой авторские права на работу и предоставляют журналу право первой публикации работы на условиях лицензии Creative Commons Attribution License, которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы сохраняют право заключать отдельные контрактные договорённости, касающиеся не-эксклюзивного распространения версии работы в опубликованном здесь виде (например, размещение ее в институтском хранилище, публикацию в книге), со ссылкой на ее оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). |
| رقم الانضمام: | edsbas.5EFBE0BE |
| قاعدة البيانات: | BASE |
| DOI: | 10.17650/2222-8721-2016-6-1-54-62 |
|---|