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Zeitschriftenartikel zum Thema „Late-onset Pome disease“

Autor: Grafiati

Veröffentlicht am 30. Juni 2021

Zuletzt aktualisiert am 11. Februar 2022

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1

Mattosova, S., A. Hlavata, P. Spalek, L. Kotysova, D. Macekova, and J. Chandoga. "Late onset form of Pompe disease." Bratislava Medical Journal 116, no. 08 (2015): 502–5. http://dx.doi.org/10.4149/bll_2015_097.

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2

Schneider, Joseph, Lynn A. Burmeister, Kyle Rudser, Chester B. Whitley, and Jeanine Jarnes Utz. "Hypothyroidism in late-onset Pompe disease." Molecular Genetics and Metabolism Reports 8 (September 2016): 24–27. http://dx.doi.org/10.1016/j.ymgmr.2016.06.002.

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3

Goker-Alpan, Ozlem, Vellore G. Kasturi, Maninder K. Sohi, et al. "Pregnancy Outcomes in Late Onset Pompe Disease." Life 10, no. 9 (2020): 194. http://dx.doi.org/10.3390/life10090194.

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There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function secondary to the involvement of the respiratory muscles. In a cohort of twenty-five females, the effects of both PD on the course of pregnancy and the effects of pregnancy on PD were investigated. Reproductive history, course of pregnancy, use of Enzyme replacement therapy (ERT), PD symptoms, and outcomes of each pregnancy were obtained through a questionnaire. Among 20 subjects that reported one or more pregnancies, one subject conceived while on ERT and continued therapy through two normal pregnancies with worsening of weakness during pregnancy and improvement postpartum. While fertility was not affected, pregnancy may worsen symptoms, or cause initial symptoms to arise. Complications with pregnancy or birth were not higher, except for an increase in the rate of stillbirths (3.8% compared to the national average of 0.2–0.7%). Given small sample size and possible bias of respondents being only women who have been pregnant, further data may be needed to better analyze the effects of pregnancy on PD, and the effects of ERT on pregnancy outcomes.

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4

Roberts, Mark. "Late-Onset Pompe Disease: A Multisystemic Disorder." Journal of Neuromuscular Diseases 2, s1 (2015): S1. http://dx.doi.org/10.3233/jnd-159001.

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5

Xirou, S., C. Papadopoulos, V. Nikolakopoulou, et al. "ERT efficacy in late onset Pompe disease." Neuromuscular Disorders 26 (October 2016): S110. http://dx.doi.org/10.1016/j.nmd.2016.06.090.

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6

Lamartine S.Monteiro, M., and G. Remiche. "Late-onset Pompe disease associated with polyneuropathy." Neuromuscular Disorders 29, no. 12 (2019): 968–72. http://dx.doi.org/10.1016/j.nmd.2019.08.016.

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7

Jones, Harrison, Kelly Crisp, Milisa Batten, et al. "Lingual pathophysiology in late-onset Pompe disease." Molecular Genetics and Metabolism 123, no. 2 (2018): S72. http://dx.doi.org/10.1016/j.ymgme.2017.12.178.

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8

Frezza, E., C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco, and R. Massa. "Late-Onset Pompe Disease with Nemaline Bodies." Case Reports in Neurological Medicine 2018 (September 27, 2018): 1–5. http://dx.doi.org/10.1155/2018/4127213.

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Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system. Clinical presentation is highly variable, with infantile and late-onset (LOPED) forms. Although muscle biopsy findings are rather stereotyped, atypical features have been described. A 52-year-old man without a family history of muscle disorders presented with slowly progressing upper and lower limb girdle weakness and hyperCKemia. At needle EMG, a diffuse neurogenic pattern was detected. Muscle biopsy showed a selective type 1 fiber atrophy with vacuoles of various sizes, filled with PAS and acid phosphatase positive material, confirmed to be glycogen by electron microscopy (EM). Many atrophic fibers contained foci of myofibrillar material recognized as nemaline bodies (NBs) at EM. Low level of alpha-glucosidase activity in blood and molecular genetic testing confirmed the diagnosis of late-onset Pompe disease (LOPED). Major causes of hereditary and acquired NB myopathy were ruled out. In conclusion, NBs represent a novel histological finding in LOPED and characterize the atypical presentation of our case.

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9

Salinas-Suikouski, Robert, Fabricio González-Andrade, and Gabriela Aguinaga-Romero. "Enfermedad de Pompe de inicio tardío desencadenada por el embarazo, reporte de una variante clínica genómica descrita por primera vez en un adulto." Revista Ecuatoriana de Neurologia 29, no. 2 (2020): 113–18. http://dx.doi.org/10.46997/revecuatneurol29200113.

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Antecedentes: esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), se describe en una mujer adulta, desencadenada por el embarazo. Es una mutación sin sentido por sustitución, homocigótica, probablemente patógena. Reporte del caso: se trata de una mujer adulta mestiza, nacida y residente en Ecuador, que durante su período de lactancia, después de un embarazo y un parto por cesárea, debutó con un trastorno musculoesquelético. Se hospitalizó a la paciente en el Hospital Eugenio Espejo en Quito, Ecuador; donde ella ha sido readmitida por varias veces. Los hallazgos clínicos más relevantes fueron debilidad muscular proximal, debilidad muscular de las extremidades inferiores, dificultad para subir escaleras, insuficiencia respiratoria debido a debilidad muscular, edema de las extremidades inferiores, deterioro de las actividades de la vida diaria, ortopnea, trastornos del sueño y debilidad muscular. Además, encontró niveles elevados de creatina quinasa sérica, actividad enzimática y coenzima anormal, escoliosis lumbar, hipertensión arterial pulmonar, con regurgitación tricuspídea y regurgitación mitral leve, reemplazo graso del músculo esquelético, insuficiencia pulmonar, miopatía esquelética y descargas miotónicas en EMG. Conclusión: esta es la primera vez en el mundo que la variante NM_000152 (GAA_V001): c.1555A˃G; p. (Met519Val), la sustitución por una mutación sin sentido, homocigota, probablemente patógena se describe en un adulto. Es el primer caso desencadenado por el embarazo, el primer caso de inicio tardío descrito en Ecuador y el primer caso descrito en una mujer mestiza de Ecuador.

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10

Yang, C. F., D. M. Niu, M. J. Jeng, Y. S. Lee, P. C. Taso, and W. J. Soong. "Late-Onset Pompe Disease With Left-Sided Bronchomalacia." Respiratory Care 60, no. 2 (2014): e26-e29. http://dx.doi.org/10.4187/respcare.03419.

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11

Berresford, S. "Alglucosidase-?? of benefit in late-onset Pompe disease." Inpharma Weekly &NA;, no. 1635 (2008): 13. http://dx.doi.org/10.2165/00128413-200816350-00023.

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12

Palmio, Johanna, Mari Auranen, Sari Kiuru-Enari, Mervi Löfberg, Olaf Bodamer, and Bjarne Udd. "Screening for late-onset Pompe disease in Finland." Neuromuscular Disorders 24, no. 11 (2014): 982–85. http://dx.doi.org/10.1016/j.nmd.2014.06.438.

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13

Finsterer, Josef. "Late-onset Pompe disease manifests in the brain." Molecular Genetics and Metabolism Reports 20 (September 2019): 100488. http://dx.doi.org/10.1016/j.ymgmr.2019.100488.

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14

Panosyan, Francis B., Michael F. Fitzpatrick, and Charles F. Bolton. "Late Onset Pompe Disease Mimicking Rigid Spine Syndrome." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 41, no. 2 (2014): 286–89. http://dx.doi.org/10.1017/s0317167100016760.

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15

Papadimas, G. K., G. Terzis, S. Methenitis, et al. "Body composition analysis in late-onset Pompe disease." Molecular Genetics and Metabolism 102, no. 1 (2011): 41–43. http://dx.doi.org/10.1016/j.ymgme.2010.09.002.

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16

Laforêt, Pascal, Valérie Doppler, Catherine Caillaud, et al. "Rigid spine syndrome revealing late-onset Pompe disease." Neuromuscular Disorders 20, no. 2 (2010): 128–30. http://dx.doi.org/10.1016/j.nmd.2009.11.006.

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17

Jastrzębska, Aleksandra, Anna Potulska‐Chromik, Anna Łusakowska, et al. "Screening for late‐onset Pompe disease in Poland." Acta Neurologica Scandinavica 140, no. 4 (2019): 239–43. http://dx.doi.org/10.1111/ane.13133.

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18

McIntosh, Paul, Laura Case, Stephanie Austin, and Priya Kishnani. "Characterization of gait in late onset Pompe disease." Molecular Genetics and Metabolism 114, no. 2 (2015): S78. http://dx.doi.org/10.1016/j.ymgme.2014.12.171.

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19

McIntosh, Paul T., Laura E. Case, Justin M. Chan, Stephanie L. Austin, and Priya Kishnani. "Characterization of gait in late onset Pompe disease." Molecular Genetics and Metabolism 116, no. 3 (2015): 152–56. http://dx.doi.org/10.1016/j.ymgme.2015.09.001.

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20

Hamed, Alaa, Andrew Stewart, Milki Tilimo, Robert Krupnick, LeAnne Maddux, and Margaret Meyer. "PRO instrument development for late-onset Pompe disease." Molecular Genetics and Metabolism 120, no. 1-2 (2017): S61—S62. http://dx.doi.org/10.1016/j.ymgme.2016.11.140.

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21

Jones, Harrison N., Kaylea Nicholson, and Kelly D. Crisp. "Respiratory muscle training in late-onset Pompe disease." Molecular Genetics and Metabolism 120, no. 1-2 (2017): S72. http://dx.doi.org/10.1016/j.ymgme.2016.11.169.

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22

Musumeci, Olimpia, and Antonio Toscano. "Diagnostic tools in late onset Pompe disease (LOPD)." Annals of Translational Medicine 7, no. 13 (2019): 286. http://dx.doi.org/10.21037/atm.2019.06.60.

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23

Cupler, Edward J., Kenneth I. Berger, Robert T. Leshner, et al. "Consensus treatment recommendations for late-onset Pompe disease." Muscle & Nerve 45, no. 3 (2011): 319–33. http://dx.doi.org/10.1002/mus.22329.

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24

Fayssoil, Abdallah, Olivier Nardi, Djillali Annane, and David Orlikowski. "Right ventricular function in late-onset Pompe disease." Journal of Clinical Monitoring and Computing 28, no. 4 (2014): 419–21. http://dx.doi.org/10.1007/s10877-014-9551-0.

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25

Papadimas, George, Gerassimos Terzis, Constantinos Papadopoulos, et al. "Bone density in patients with late onset Pompe disease." International Journal of Endocrinology and Metabolism 10, no. 4 (2012): 599–603. http://dx.doi.org/10.5812/ijem.4967.

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26

Kostera-Pruszczyk, A., A. Potulska-Chromik, A. Lusakowska, et al. "Screening for late onset Pompe disease – Single center experience." Neuromuscular Disorders 26 (October 2016): S107. http://dx.doi.org/10.1016/j.nmd.2016.06.081.

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27

Monteiro, Sergio G., and Eduardo L. De Vito. "Blunted respiratory drive response in late onset Pompe disease." Neuromuscular Disorders 27, no. 2 (2017): 201–2. http://dx.doi.org/10.1016/j.nmd.2016.12.015.

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28

Papadopoulos, C., G. K. Papadimas, H. Michelakakis, E. Kararizou, and P. Manta. "Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease." Molecular Genetics and Metabolism Reports 1 (2014): 2–4. http://dx.doi.org/10.1016/j.ymgmr.2013.10.002.

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29

Schneider, Ilka, Ole Hensel, and Stephan Zierz. "Response: Late-onset Pompe disease manifests in the brain." Molecular Genetics and Metabolism Reports 21 (December 2019): 100516. http://dx.doi.org/10.1016/j.ymgmr.2019.100516.

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30

Gupta, Punita, Edward C. Nunziato, and Swati Sathe. "Prevalence of late onset Pompe disease in unclassified LGMD." Molecular Genetics and Metabolism 108, no. 2 (2013): S45. http://dx.doi.org/10.1016/j.ymgme.2012.11.102.

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31

Ruiz, Agustin Gutierrez, Joaquina Prieto Prieto, Amaia Laita Legarreta, and Maria Carmen Percaz Bados. "No. 15 Pompe Disease Late-Onset: A Case Report." PM&R 6, no. 8 (2014): S100. http://dx.doi.org/10.1016/j.pmrj.2014.08.293.

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32

Kurashige, T., N. Shiroma, A. Motoda, et al. "P.17.2 Late onset Pompe disease with dilated cardiomyopathy." Neuromuscular Disorders 23, no. 9-10 (2013): 826–27. http://dx.doi.org/10.1016/j.nmd.2013.06.652.

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33

Hansen, J. S., E. G. Pedersen, D. Gaist, et al. "Screening for late-onset Pompe disease in western Denmark." Acta Neurologica Scandinavica 137, no. 1 (2017): 85–90. http://dx.doi.org/10.1111/ane.12811.

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34

Schüller, Angela, Stephan Wenninger, Nicola Strigl-Pill, and Benedikt Schoser. "Toward deconstructing the phenotype of late-onset Pompe disease." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 160C, no. 1 (2012): 80–88. http://dx.doi.org/10.1002/ajmg.c.31322.

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35

Angelini, Corrado, Marco Savarese, Marina Fanin, and Vincenzo Nigro. "Next generation sequencing detection of late onset pompe disease." Muscle & Nerve 53, no. 6 (2016): 981–83. http://dx.doi.org/10.1002/mus.25042.

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36

Hobson-Webb, Lisa D., and Priya S. Kishnani. "How common is misdiagnosis in late-onset pompe disease?" Muscle & Nerve 45, no. 2 (2012): 301–2. http://dx.doi.org/10.1002/mus.22296.

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37

Hernandez, Zachary, Kelly Wickstrom, and Tammer El-Aini. "Medical image of the month: late-onset Pompe disease." Southwest Journal of Pulmonary and Critical Care 20, no. 4 (2020): 124–25. http://dx.doi.org/10.13175/swjpcc022-20.

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38

Matsui, Misa, Kimiko Inoue, Saburo Sakoda, et al. "Screening for late-onset Pompe disease in undiagnosed myopathies." Neurology and Clinical Neuroscience 5, no. 2 (2016): 60–64. http://dx.doi.org/10.1111/ncn3.12108.

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39

Dobbins, Julia, Tim Pyragius, Kristian Brion, et al. "112 Blood spot testing for late onset pompe disease." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 6 (2018): A44.2—A44. http://dx.doi.org/10.1136/jnnp-2018-anzan.111.

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IntroductionPompe disease is classified by age of onset and presentation. Late-onset Pompe disease (LOPD) generally presents with progressive limb-girdle and respiratory muscle weakness. Diagnosis is confirmed following dried blood spot (DBS) enzyme assay by a second method, either mutation or glucose tetra-saccharide analysis.MethodsFrom 2000 to 2016, acid α –glucosidase (GAA) activity in DBS was measured using the immuno-capture assay of . Umapathysivam et al. (2001) From 2016 testing used the multiplex tandem mass spectrometry method (6-PLEX LC-MSMS, Perkin Elmer), measuring six lysosomal storage disease enzymes from one DBS. Glucose tetra-saccharides were measured by mass spectrometry and mutation analysis of the GAA gene was performed using either Sanger or Next Generation Sequencing, the latter confirmed by sequencing.ResultsBetween 2000 and 2016, approximately 1500 samples were screened for Pompe disease with 77 positives, a diagnosis rate of 5.1%. Of these, 33 were infantile Pompe disease, with 44 LOPD. Since May 2016, a further 850 patients have been screened for Pompe disease using the MSMS method and of these, 28 patients have screened as positive, with 19 confirmed as having Pompe disease, either by molecular testing or urine tetra-saccharide measurement, a diagnosis rate of 2.2%. Of these 19 patients, 17 are LOPD, with only two infants being diagnosed in this time. Seven adults are still to be confirmed by a second test.ConclusionThe number of patients presenting for testing follows the recent Australian government funding for enzyme replacement therapy for adults with LOPD. The ease of submitting a dried blood spot sample for testing has contributed to an increase in test requests, although this may also reflect an increased recognition of this condition. These patients may have already been diagnosed clinically, but in the absence of a treatment, there was little benefit in a formal diagnosis.

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40

Hagemans, M. L. C., S. P. M. Schie, A. C. J. W. Janssens, P. A. Doorn, A. J. J. Reuser, and A. T. Ploeg. "Fatigue: an important feature of late-onset Pompe disease." Journal of Neurology 254, no. 7 (2007): 941–45. http://dx.doi.org/10.1007/s00415-006-0434-2.

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41

Borelli, Elena, Maria Luisa Casciana, Claudia Salemi, Silvia Sordelli, and Silvia Fasoli. "IperCKemia asintomatica: la malattia di Pompe late-onset." Medico e Bambino pagine elettroniche 24, no. 4 (2021): 105–8. http://dx.doi.org/10.53126/mebxxiv105.

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The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of clinical manifestations. Dried blood spot (DBS) screening test for acid α-glucosidase (AAG) enzyme activity was below normal levels and molecular genetic testing for AAG gene demonstrated pathogenic mutations. The diagnosis of late-onset Pompe disease (LOPD) was finally confirmed. Thanks to the early diagnosis, the child would be under close surveillance and would timely commence enzyme replacement therapy (ERT), improving the prognosis of the disease.<br> The diagnostic delay in patients with LOPD is still common, namely between about 5 and 30 years. Clinicians need a high index of suspicion to recognize this condition as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders.<br> Diagnostic laboratory tests are quite fast and reliable to detect the enzymatic deficiency and enzyme replacement therapy (ERT) is available and improves long-term outcomes. Thus, it is of absolute importance that clinicians should consider the possibility of LOPD in patients who present with asymptomatic hyperCKemia.

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42

Smertina, L. P., F. I. Ausheva, A. V. Gryaznov, D. A. Svetlakov, and L. N. Kolbasin. "Late-onset Pompe disease: preliminary results of enzyme replacement therapy." Neuromuscular Diseases 9, no. 2 (2019): 43–49. http://dx.doi.org/10.17650/2222-8721-2019-9-2-43-49.

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Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA gene mutation and subsequent reduction in the activity of the enzyme alglucosidase alpha or acid maltase. The variety of phenotypic forms and varying degrees of damage to the skeletal and respiratory muscles, cardiomyocytes and internal organs greatly complicates the diagnosis and treatment of patients with Pompe»s disease. This article describes the clinical case of late-onset Pompe disease, which was followed by a course of enzyme replacement therapy, as well as an assessment of the condition before and after treatment and preliminary results.

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43

Bertoldo, Francesco, Francesca Zappini, Martina Brigo, et al. "Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease." Journal of Neuromuscular Diseases 2, s1 (2015): S13. http://dx.doi.org/10.3233/jnd-159013.

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44

Montagnese, F., F. Granata, O. Musumeci, et al. "Intracranial Arterial Abnormalities in Patients with Late-Onset Pompe Disease." Journal of Neuromuscular Diseases 2, s1 (2015): S48. http://dx.doi.org/10.3233/jnd-159043.

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45

Colonna, S., G. Iolascon, R. Gimigliano, et al. "Multidimensional evaluation in siblings affected by late onset Pompe disease." Annals of Physical and Rehabilitation Medicine 61 (July 2018): e136. http://dx.doi.org/10.1016/j.rehab.2018.05.302.

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46

Toscano, A., F. Montagnese, F. Granata, et al. "Intracranial arterial abnormalities in patients with late onset Pompe disease." Neuromuscular Disorders 25 (October 2015): S190. http://dx.doi.org/10.1016/j.nmd.2015.06.028.

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47

Stewart, A., R. Krupnick, M. Meyer, J. Paty, and A. Hamed. "Late-onset Pompe disease signs and impacts: A conceptual model." Neuromuscular Disorders 26 (October 2016): S110. http://dx.doi.org/10.1016/j.nmd.2016.06.091.

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48

Schneider, I., M. Deschauer, and F. Hanisch. "Enzyme replacement therapy and antibodies in late-onset Pompe disease." Molecular Genetics and Metabolism Reports 1 (2014): 232–34. http://dx.doi.org/10.1016/j.ymgmr.2014.01.001.

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49

Smith, Barbara K., Manuela Corti, A. Daniel Martin, David D. Fuller, and Barry J. Byrne. "Altered activation of the diaphragm in late-onset Pompe disease." Respiratory Physiology & Neurobiology 222 (February 2016): 11–15. http://dx.doi.org/10.1016/j.resp.2015.11.013.

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50

Laforêt, P., V. Doppler, C. Caillaud, et al. "G.P.8.11 Rigid spine syndrome revealing late-onset Pompe disease." Neuromuscular Disorders 19, no. 8-9 (2009): 594. http://dx.doi.org/10.1016/j.nmd.2009.06.161.

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