Mucopolysaccharidoses and similar lysosomal disorders – A guide for affected individuals, their families, doctors and nursing professionals (eBook)

Susanne Gerit Kircher (Autor)

eBook Download: PDF

2024 | 4th edition
197 Seiten
UNI-MED Verlag AG
978-3-8374-5670-7 (ISBN)

Infos

In recent years, there has been enormous scientific interest in the area of lysosomal storage disorders, especially the mucopolysaccharidoses. Advanced diagnostics, particularly in the field of molecular genetics, have become more widely available, and at the same time numerous new therapies have been developed for these so-called 'orphan diseases'.
The current 4th edition of this book no longer only focuses on mucopolysaccharidoses, but also a number of similar diseases. Therefore, the new revised guide is intended to provide essential information not only for health professionals, but also the affected individuals themselves and their families.
This book introduces the pathophysiology of these rare metabolic diseases and provides an overview of current treatment and management options such as bone marrow (stem cell) transplantation and enzyme replacement therapy. It will be a helpful companion for patients and their carers, and will also serve doctors and allied healthcare practitioners as a comprehensive reference work for the diagnosis and therapy of lysosomal storage diseases.

Inhalt

1.Introduction12
2.The history of mucopolysaccharidoses and similar disorders15
2.1.Conspicuous features as a first indication15
2.2.Early possible traces of mucopolysaccharidosis and similar disorders16
2.3.First confirmed evidence of mucopolysaccharidoses and similar disorders16
2.4.The mucopolysaccharidoses and similar lysosomal storage disorders through the ages23
2.5.Outlook23
3.Physiology, biochemistry and pathophysiology in mucopolysaccharidoses
and similar lysosomal storage disorders27
3.1.Physiology of lysosomes27
3.2.Formation (synthesis) of lysosomal enzymes27
3.3.Pathophysiology of lysosomal enzymes28
3.4.Measuring the activity of lysosomal enzymes29
3.5.Biochemistry29
3.6.Biochemical detection and diagnostics31
3.7.Further biomarkers in lysosomal storage disorders31
4.General aspects of mucopolysaccharidoses and similar lysosomal storage
disorders34
4.1.Nomenclature and synonyms34
4.2.Frequency of lysosomal storage disorders35
4.3.Multisystemic diseases35
4.4.Genotype-phenotype correlation, special types36
4.5.Lysosomal storage disorders and co-morbidities36
4.6.Early symptoms of MPS and similar lysosomal storage disorders36
4.7.Clinical suspicions for lysosomal storage disorders37
4.8.The diagnostic odyssey40
4.9.Newborn screening40
4.10.Patient registries41
5.Clinical presentation of mucopolysaccharidoses43
5.1.General clinical aspects43
5.1.1.Dysostosis multiplex and typical radiological findings45
5.1.2.Imaging findings in the brain and spinal cord49
5.1.3.Heart and vessels50
5.1.4.Airway and anesthesia problems50
5.2.The clinical presentation of mucopolysaccharidosis50
5.2.1.Mucopolysaccharidosis type I – iduronidase deficiency50
5.2.2.Mucopolysaccharidosis type II – Hunter54
5.2.3.Mucopolysaccharidosis type III – Sanfilippo57
5.2.4.Mucopolysaccharidosis type IV – Morquio61
5.2.5.Mucopolysaccharidosis type VI – Maroteaux-Lamy67
5.2.6.Mucopolysaccharidosis type VII – Sly69
5.2.7.Mucopolysaccharidosis type IX – hyaluronidase deficiency71
5.2.8.Mucopolysaccharidosis type X – arylsulfatase K deficiency72
5.2.9.Mucopolysaccharidosis plus syndrome73
6.Selected similar lysosomal storage disorders and differential diagnoses77
6.1.Selected similar lysosomal storage disorders77
6.1.1.Oligosaccharidoses / glycoproteinoses78
6.1.1.1.Alpha-mannosidosis (a-mannosidosis)78
6.1.1.2.Alpha-N-acetylgalactosaminidase deficiency – Schindler disease79
6.1.1.3.Aspartylglucosaminuria80
6.1.1.4.Beta-mannosidosis (b-mannosidosis)80
6.1.1.5.Fucosidosis81
6.1.1.6.Galactosialidosis (Goldberg syndrome)82
6.1.1.7.Sialidosis – neuraminidase deficiency83
6.1.2.Sialic acid metabolic disorders84
6.1.2.1.Sialuria84
6.1.2.2.Free sialic acid storage disorders – ISSD and Salla disease84
6.1.3.Sphingolipidoses / neurolipidoses85
6.1.3.1.Fabry disease85
6.1.3.2.Farber disease and SMA-PME (ASAH1-Related Disorders)87
6.1.3.3.GM1 and GM2 gangliosidoses88
6.1.3.3.1.GM1 gangliosidosis (GLB1-associated disorder)88
6.1.3.3.2.GM2 gangliosidoses (Tay-Sachs and Sandhoff)89
6.1.3.4.Gaucher disease91
6.1.3.5.Krabbe disease (globoid cell leukodystrophy)93
6.1.3.6.Metachromatic leukodystrophy (arylsulfatase A deficiency)94
6.1.3.7.Acid sphingomyelinase deficiency and Niemann-Pick type C94
6.1.3.7.1.Acid sphingomyelinase deficiency (ASMD)95
6.1.3.7.2.Niemann-Pick disease type C96
6.1.4.Others96
6.1.4.1.CDG syndromes – diseases with disorders of glycosylation96
6.1.4.2.Lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease)97
6.1.4.3.Multiple sulfatase deficiency98
6.1.4.4.Neuronal ceroid lipofuscinoses99
6.1.4.5.Pompe disease99
6.1.4.6.Pycnodysostosis100
6.2.Differential diagnoses103
6.2.1.Williams-Beuren syndrome103
6.2.2.Coffin-Lowry syndrome104
6.2.3.Smith-Magenis syndrome105
6.2.4.Beckwith-Wiedemann syndrome107
6.2.5.Congenital hypothyroidism108
6.2.6.Type II collagen disorders – collagenopathies type II109
6.2.7.Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia type 1110
6.2.8.Cornelia de Lange syndrome112
6.2.9.Costello syndrome113
6.2.10.3M syndrome114
7.Mucolipidoses117
7.1.Underlying pathomechanisms117
7.2.Clinical presentation of mucolipidosis118
7.2.1.Mucolipidosis I118
7.2.2.Mucolipidosis II alpha/beta (ML II a/b) – I-cell disease119
7.2.3.Mucolipidosis III alpha/beta (ML III a/b)121
7.2.4.Mucolipidosis III gamma (ML III g)123
7.2.5.Mucolipidosis IV123
8.Treatment125
8.1.Symptomatic treatment125
8.1.1.Musculoskeletal system125
8.1.2.Neurological problems126
8.1.2.1.Central and local nerve damage126
8.1.2.2.Developmental delay, loss of mental abilities, behavioral abnormalities and epileptic seizures127
8.1.2.3.Hydrocephalus128
8.1.3.Sensory organs128
8.1.4.Airways and lungs129
8.1.5.Cardiovascular system129
8.1.6.Anesthesia problems129
8.2.Causal therapies131
8.2.1.Hematopoietic stem cell transplantation (HSCT)131
8.2.2.Systemic enzyme replacement therapy (ERT)132
8.2.3.Substrate reduction therapy (SRT): genistein133
8.2.4.Pharmacological chaperones (PC)134
8.2.5.CNS-sensitive enzyme replacement therapy134
8.2.6.Gene therapy134
9.Emergency situations136
9.1.Perioperative risks136
9.2.Risk of infusion reactions137
9.3.Other risks137
10.Genetics and genetic counseling139
10.1.Medical basics139
10.2.Genetic counseling143
10.2.1.Prenatal diagnosis143
10.2.2.Preimplantation genetic diagnosis143
10.2.3.Heterozygote tests144
10.2.4.Considerations regarding genetics in a family145
11.Puberty and transition147
11.1.Puberty147
11.2.Transition149
12.Fertility and the desire to have children152
12.1.Fertility152
12.2.Planning the desire to have children152
13.Living with mucopolysaccharidosis155
13.1.Making everyday life easier for those affected155
13.1.1.Medical aids155
13.1.2.Wheelchairs155
13.1.3.Electronic aids156
13.2.Leisure, hobbies and social contacts156
13.2.1.Sport and exercise156
13.2.2.Exercise in the fresh air157
13.2.3.Playing games157
13.3.School and education157
13.4.Siblings – shadow children160
13.5.Parents – not flawless, but always striving for perfection162
14.Self-help and self-help organizations163
15.Important contact addresses168
15.1.Hospitals and departments168
15.2.Self-help associations for mucopolysaccharidosis and rehabilitation centers170
16.Glossary – Explanation of important terms180
Index193

Produkt-Details

• Erscheint lt. Verlag: 10.6.2024
• Reihe/Serie: UNI-MED Science
• Verlagsort: Bremen
• Sprache: englisch
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete ► Pädiatrie
• Schlagworte: lysosomal disorders • MPS • Mucopolysaccharidoses
• ISBN-10: 3-8374-5670-6 / 3837456706
• ISBN-13: 978-3-8374-5670-7 / 9783837456707