Распространенность болезни Помпе у пациентов с идиопатической гиперкреатинкиназемией и слабостью поясно-конечностных мышц (анализ 3076 случаев)*
https://doi.org/10.17650/2222-8721-2016-6-3-24-27
Аннотация
Об авторах
Lukacs Zoltan
Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center; Hamburg, Germany
Германия
Германия
Paulina Nieves Cobos
Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center; Hamburg, Germany
Германия
Германия
Stephan Wenninger
Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik, University of Munich; Munich, Germany
Германия
Германия
Tracey A. Willis
The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust; Oswestry, United Kingdom
Великобритания
Великобритания
Michela Guglieri
Institute of Genetic Medicine; Newcastle, United Kingdom
Великобритания
Великобритания
Marc Roberts
Salford Royal NHS Foundation Trust; Salford, United Kingdom
Великобритания
Великобритания
Rosaline Quinlivan
UCL Institute of Neurology and National Hospital, Queen Square; London, United Kingdom
Великобритания
Великобритания
David Hilton-Jones
Department of Neurology, Oxford University Hospital; Oxford, United Kingdom
Великобритания
Великобритания
Teresinha Evangelista
Institute of Genetic Medicine; Newcastle, United Kingdom
Великобритания
Великобритания
Stephan Zierz
Department of Neurology, Halle University; Halle, Germany
Германия
Германия
Beate Schlotter-Weigel
Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik,University of Munich; Munich, Germany
Германия
Германия
Maggie C Walter
Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik,University of Munich; Munich, Germany
Германия
Германия
Peter Reilich
Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik,University of Munich; Munich, Germany
Германия
Германия
Thomas Klopstock
Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik,University of Munich; Munich, Germany
Германия
Германия
Marcus Deschauer
Department of Neurology, Halle University; Halle, Germany
Германия
Германия
Volker Straub
Institute of Genetic Medicine; Newcastle, United Kingdom
Великобритания
Великобритания
Wolfgang Müller-Felber
Department of Neuropediatrics, Dr. Von Haunersche Kinderklinik Ludwig Maximilian University of Munich; Munich, Germany
Германия
Германия
Benedikt Schoser
Department of Neurology, Friedrich-Baur-Institut, Medizinische Klinik,University of Munich; Munich, Germany
Германия
Германия
Список литературы
1. van der Ploeg A.T., Reuser A.J. Pompe’s disease. Lancet 2008;372(9646):1342–53. DOI: 10.1016/S0140-6736(08)61555-X. PMID: 18929906.
2. Gьngцr D., de Vries J.M., Hop W.C. et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis 2011;6:34. DOI: 10.1186/1750-1172-6-34. PMID: 21631931.
3. Schьller A., Wenninger S., Strigl-Pill N., Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet 2012;160C(1):80–8. DOI: 10.1002/ajmg.c.31322. PMID: 22253010.
4. Kishnani P.S., Amartino H.M., Lindberg C. et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.Am J Med Genet A 2013;161A(10):2431–43. DOI: 10.1002/ajmg.a.36110. PMID: 23997011.
5. Lukacs Z., Nieves C.P., Mengel E. et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes: possibility for newborn screening. J Inherit Metab Dis 2010;33(1):43–50. DOI: 10.1007/s10545- 009-9003-z. PMID: 20033296.
6. Gutiйrrez-Rivas E., Bautista J., Vнlchez 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 Disord 2015;25(7):548–53. DOI: 10.1016/j. nmd.2015.04.008. PMID: 25998610.
7. Musumeci O., la Marca G., Spada M. et al. LOPED Study: looking for an early diagnosis in a late-onset Pompe disease highrisk population. J Neurol Neurosurg Psychiatry 2016;87(1):5–11. DOI: 10.1136/jnnp-2014-310164. PMID: 25783438.
8. Palmio J., Auranen M., Kiuru-Enari S. et al. Screening for late-onset Pompe disease in Finland. Neuromuscul Disord 2014;24(11):982–5. DOI: 10.1016/j.nmd.2014.06.438. PMID: 25047669.
9. Spada M., Porta F., Vercelli L. et al. Screening for lateronset Pompe’s disease in patients with paucisymptomatic hyperCKemia. Mol Genet Metab 2013;109(2):171–3. DOI: 10.1016/j.ymgme.2013.03.002. PMID: 23566438.
10. Preisler N., Lukacs Z., Vinge L. et al. Lateonset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab 2013;110(3):287–9. DOI: 10.1016/j. ymgme.2013.08.005. PMID: 24011652.
11. Goldstein J.L., Young S.P., Changela M. et al. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve 2009;40(1): 32–6. DOI: 10.1002/mus.21376. PMID: 19533645.
12. Pérez-López J., Selva-O’Callaghan A., Grau-Junyent J.M. et al. Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyper-CKemia. Mol Genet Metab 2015;114(4):580–3. DOI: 10.1016/j.ymgme.2015.02.004. PMID: 25752415.
13. Никитин С.С. Бессимптомная гиперкреатинкиназемия в клинике нервно-мышечных болезней. Неврологический журнал 2015;20(5):26–33. DOI: 10.18821/1560-9545-2015-20-5-26-33. [Nikitin S.S. Asymptomatic elevation of creatine kinase in neuromuscular diseases. Nevrologicheskiy zhurnal = The Neurological Journal 2015;20(5):26–33. DOI: 10.18821/1560-9545-2015-20-5-26-33. (In Russ.)].
14. Schoser B., Toscano A. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 2013;260(4):951–9. DOI: 10.1007/s00415-012-6636-x. PMID: 22926164.
Рецензия
Для цитирования:
Zoltan L., Nieves Cobos P., Wenninger S., Willis T.A., Guglieri M., Roberts M., Quinlivan R., Hilton-Jones D., Evangelista T., Zierz S., Schlotter-Weigel B., Walter M.C., Reilich P., Klopstock T., Deschauer M., Straub V., Müller-Felber W., Schoser B. Распространенность болезни Помпе у пациентов с идиопатической гиперкреатинкиназемией и слабостью поясно-конечностных мышц (анализ 3076 случаев)*. Нервно-мышечные болезни. 2016;6(3):24-27. https://doi.org/10.17650/2222-8721-2016-6-3-24-27
For citation:
Zoltan L., Nieves Cobos P., Wenninger S., Willis T.A., Guglieri M., Roberts M., Quinlivan R., Hilton-Jones D., Evangelista T., Zierz S., Schlotter-Weigel B., Walter M.C., Reilich P., Klopstock T., Deschauer M., Straub V., Müller-Felber W., Schoser B. . Neuromuscular Diseases. 2016;6(3):24-27. (In Russ.) https://doi.org/10.17650/2222-8721-2016-6-3-24-27
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