Biochemical markers of lipid storage and vasculopathy in Fabry disease

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1. Verfasser: Ries, Markus (VerfasserIn)
Format: Abschlussarbeit Buch
Sprache:English
Veröffentlicht: 2008
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adam_text Index ABBREVIATIONS VII INDEX IX 1 SUMMARY 1 2 INTRODUCTION 3 2.1 Sphingolipid Metabolism 3 2.2 Lysosomal Storage Disorders 6 2.3 Threshold theory of residual enzyme activity 9 2.4 Fabry Disease 9 2.5 Enzyme replacement therapy for Fabry disease 21 2.5.1 Principle 21 2.5.2 Challenges 22 2.6 Inhibitors of GALA as molecular chaperones 23 3 AIMS 25 4 RESULTS 27 4.1 Correlation between Gb3 storage and residual GALA activity in fibroblasts 27 4.1.1 Storage determination with a cellular system based on GALA inhibition with DGJ 27 4.1.2 Imaging analysis based on immunocytochemistry 33 4.1.3 Gb3 determination with FACS 37 4.1.4 Determination of storage threshold based on electron microscopy 38 4.2 Phenotypic characterization of patients with Fabry disease with residual enzyme activity 39 4.2.1 Pediatric patients 39 4.2.2 Residual GALA enzyme activity and the affliction of the auditory system in Fabry disease 44 4.3 Enzyme replacement therapy: long-term effects on Gb3 and renal function with the conventional dose and frequency regimen 44 4.3.1 Biochemical response 45 4.3.2 Clinical response 47 A A Optimization and Individualization of enzyme replacement therapy 51 4.4.1 Frequency intensified intervention 51 4.4.2 Biochemical results 52 4.4.3 Clinical results 53 IX 4.4.3.1 eGFR 53 4.4.3.2 Proteinuria 56 4.4.3.3 Sweating 56 4.5 Early intervention 56 4.5.1 Biochemical response 57 4.5.2 Clinical response 60 4.5.2.1 eGFR 60 4.5.2.2 Proteinuria 61 4.5.2.3 Sweating 61 4.5.2.4 Heart rate variability 62 4.5.2.5 Neuropathic pain and use of anticonvulsant medication 63 4.6 Pharmacokjnetics and Pharmacodynamics of enzyme replacement therapy in children and adults 64 4.6.1 Pharmacokinetics in Children 64 4.6.2 Pharmacokinetics in Adults 65 4.6.3 Pharmacodynamics 70 4.7 The role of myeloperoxidase to predict vasculopathic events in hemizygous patients with fabry disease 73 5 DISCUSSION 75 6 CONCLUSION 102 7 MATERIAL AND METHODS 103 7.1 Determination of threshold 103 7.1.1 Equipment and Instruments 103 7.1.2 Consumables 104 7.1.3 Biologic materials 105 7.1.4 Cell cultures 105 7.1.4.1 Cell types 105 7.1.4.2 Cell culture Flasks 105 7.1.4.3 Cell culture media 106 7.1.4.4 Antibodies 106 7.1.5 Buffer 107 7.1.5.1 CP buffer 107 7.1.5.2 Extraction buffer 107 7.1.5.3 Stop buffer 107 7.1.5.4 Standard assay buffer 107 7.1.5.5 Tris-Buffered Saline 107 7.7.6 Cell culture techniques 108 7.1.6.1 Seeding of cultures 108 X 7.1.6.2 Harvest of cells 109 7.7.7 Analytical methods 109 7.1.7.1 GALA activity in homogenate 109 7.1.7.2 GALA activity in situ for cell cultures 110 7.1.7.3 GALA activity in leukocytes 111 7.1.7.4 GALA activity in serum for pharmacokinetics 111 7.1.7.5 Pharmacokinetic Analysis 112 7.1.7.6 Immunostaining cells on glass coverslips 113 7.1.7.7 Immunocytochemistry image analysis 114 7.1.7.8 FACS(Guava) analysis of Gb3 staining 115 7.1.7.9 Gb3 in plasma and urine 116 7.1.7.10 Protein determination 116 7.1.7.11 ELISA for Gb3 117 7.1.7.12 ELISA for Anti-agalsidase alfa antibodies 117 7.1.7.13 ELISA for myeloperoxidase levels in serum and plasma 118 7.1.7.14 GLA genetic mutation analysis 118 7.1.7.15 Structural mutational analysis 118 7.1.7.16 Quantitative Sudomotor Axon Reflex Test (QSART) 119 7.1.8 Statistics 119 7.2 Natural History study 119 7.2.1 Patients 119 7.2.2 Height, Body mass index (BMI), and weight 120 7.2.3 GFR 120 7.2.4 Heart examination 120 7.2.4.1 Electrocardiogram 120 7.2.4.2 Echocardiogram 120 7.2.5 Eye examinations 122 7.2.6 Statistical analysis 122 7.3 Pharmacokinetics 123 7.3.1 Pediatric patients 123 7.3.2 Adult patients 124 7.3.3 Enzyme infusions and blood sampling 124 7.3.4 Test Article 125 1A Long term ERT 125 7.4.1 Study Design 125 7.4.2 Agalsidase Alfa 126 7.4.3 Safety 127 7.4.4 Measurements of Renal Function 127 XI 7.4.5 Statistical analysis 128 7.5 Frequency intensified 128 7.5.1 Study design 128 7.5.2 Patients and demographics 129 7.5.3 Intervention and setting 129 7.5.4 Primary outcome measure 129 7.5.5 Assessments 130 7.5.6 Renal function 130 7.5.7 Statistics 130 7.6 Early intervention 131 7.6.1 Study Design 131 7.6.2 Study Subjects 131 7.6.3 Agalsidase Alfa Treatment 132 7.6.4 Safety assessment 132 7.6.5 Renal status 132 7.6.6 Cardiac status 133 7.6.7 Heart Rate Variability 133 7.6.8 Diaries 134 7.6.9 Repeated measurements 134 1.1 MYELOPEROX1DASE STUDIES 134 7.7.1 Patients 134 7.7.2 Sampling 735 7.7.3 Statistics 135 8 APPENDIX 136 9 ACKNOWLEDGEMENTS 141 10 LITERATURE 143 XII
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Biochemical markers of lipid storage and vasculopathy in Fabry disease
subject_GND (DE-588)4113937-9
title Biochemical markers of lipid storage and vasculopathy in Fabry disease
title_auth Biochemical markers of lipid storage and vasculopathy in Fabry disease
title_exact_search Biochemical markers of lipid storage and vasculopathy in Fabry disease
title_full Biochemical markers of lipid storage and vasculopathy in Fabry disease von Markus Ries
title_fullStr Biochemical markers of lipid storage and vasculopathy in Fabry disease von Markus Ries
title_full_unstemmed Biochemical markers of lipid storage and vasculopathy in Fabry disease von Markus Ries
title_short Biochemical markers of lipid storage and vasculopathy in Fabry disease
title_sort biochemical markers of lipid storage and vasculopathy in fabry disease
topic_facet Hochschulschrift
url http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=016729909&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
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