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Lysosomal Storage Diseases - Early Diagnosis & New Treatments (Hardcover)
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Lysosomal Storage Diseases - Early Diagnosis & New Treatments (Hardcover)
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The last fifteen years have witnessed the extraordinary evolution
of basic and clinical research in the field of lysoso-mal storage
diseases (LSDs), transforming many of them from dire, untreatable
progressive diseases to conditions that allow for possible cure or
mitigation. In addition to the presently employed techniques of
haematopoietic stem cell transplantation and enzyme replacement for
a number of lysoso-mal storage diseases, other therapeutic
approaches are being developed that are based on different
principles. The awareness that the efficacy of treatment is greater
if adminis-tered at the first signs of disease or, even better,
during the pre-symptomatic phase underscores the urgency of early
clinical diagnosis. Efforts are being made to improve the clinical
acumen of paediatricians, paediatric surgeons and neurologists,
rheumatologists, orthopaedists, and other professionals who come
into early contact with children with LSDs. The possibility of
including some of these disorders in routine neonatal screening is
also a matter of discussion. This volume provides an updated
overview of epidemiologic, biochemical, genetic, pathogenetic, and
clinical aspects of these disorders and outlines the various
treatment options currently available for the LSDs. The need for
patients with rare diseases like LSDs to be followed-up in a
specialised centre is emphasised in view of the many kinds of
multidisciplinary treatment that are needed to improve the quality
of life and survival of these children.
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