RESUMEN
Lysosomal storage disorders (LSD) are monogenic diseases caused by the deficiency of different lysosomal enzymes that degrade complex substrates such as glycosaminoglycans, sphingolipids, and others. As a consequence there is multisystemic storage of these substrates. Most treatments for these disorders are based in the fact that most of these enzymes are soluble and can be internalized by adjacent cells via mannose-6-phosphate receptor. In that sense, these disorders are good candidates to be treated by somatic gene therapy based on cell microencapsulation. Here, we review the existing data about this approach focused on the LSD treatments, the advantages and limitations faced by these studies.
Asunto(s)
Trasplante de Células/métodos , Composición de Medicamentos/estadística & datos numéricos , Enfermedades por Almacenamiento Lisosomal del Sistema Nervioso/terapia , Animales , Materiales Biocompatibles/síntesis química , Materiales Biocompatibles/química , Materiales Biocompatibles/uso terapéutico , Trasplante de Células/instrumentación , Composición de Medicamentos/métodos , Técnicas de Transferencia de Gen , Terapia Genética/instrumentación , Terapia Genética/métodos , Humanos , Enfermedades por Almacenamiento Lisosomal del Sistema Nervioso/genética , Modelos BiológicosRESUMEN
Los angioqueratomas son lesiones vasculares relativamente infrecuentes que consisten en pápulas hiperqueratósicas rojo-violáceas. Éstas pueden ser únicas o múltiples, estar localizadas en un único segmento corporal o ser generalizadas y estar o no asociadas a otras enfermedades subyacentes. El presente trabajo abordará en profundidad los angioqueratomas generalizados complementando la primera parte en la que se trataron los angioqueratomas localizados.
Angiokeratomas are a relatively non-frequent group of vascular lesions that consist on hyperkeratotic red-violaceous papules. Lesions can be solitary or multiple, localized or generalized and may be associated or not with a systemic disease. The present work is a throughout review on generalized angiokeratomas and it is a complement of the first part in which localized angiokeratomas have been discussed.
Asunto(s)
Humanos , alfa-Manosidosis , Angioqueratoma , Aspartilglucosilaminasa , beta-Galactosidasa , beta-Manosidosis , Enfermedad de Fabry , Fucosidosis , Enfermedades por Almacenamiento Lisosomal del Sistema Nervioso , Diagnóstico DiferencialRESUMEN
The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summarized in Part 1. Insights gained from several observational studies are discussed. Prospective studies of the natural history of most neuronopathic LSDs have been hampered by the rarity of these conditions and the short survival of affected patients. Increasingly, longitudinal observations relating to neurological manifestations are being reported. Better clinical studies are necessary, including repeated measurements of disease progression to facilitate the development of sensitive scoring systems and appropriate counseling of affected individuals and their families. Ideally, clinical studies should involve a large cohort. As treatment becomes available, knowledge of disease expression and factors that influence the phenotype may enable critical assessment of therapeutic outcomes. It is hoped that increased familiarity with the clinical expression of individual LSDs will allow early diagnosis, so families at risk are given options to consider during future pregnancies. Early diagnosis also permits the introduction of timely intervention, to favoring improved outcome in cases that are potentially treatable.