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Síndrome de Hutchinson-Gilford : abordagem terapêutica e genética
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Abstract(s)
Uma das mais conhecidas síndromes Progeróides é a Progéria, também designada por Síndrome de Hutchinson – Gilford (HGPS).
A Síndrome de Hutchinson – Gilford trata-se de uma patologia genética autossómica dominante resultante de uma mutação no gene LMNA, localizado no cromossoma 1, no locus 1q21.2-q21.2, caraterizada por originar um envelhecimento prematuro, sete vezes mais avançado que o envelhecimento fisiológico normal.
A nível epidemiológico esta é uma doença rara, afetando um a cada quatro a oito milhões de recém-nascidos.
Até ao momento da elaboração desta monografia não existe cura para esta síndrome, sendo que a terapêutica realizada nos portadores de progéria limita-se a atuar nos sintomas da mesma.
One of the most known progeroid syndromes is Progeria, also known as Hutchinson-Gilford Syndrome (HGPS). Hutchinson-Gilford Syndrome is a dominant autosomal genetical disease resulting from a mutation in the LMNA gene, located on chromosome 1, locus 1q21.2-q21.2 characterized by a prematurely aging, about seven times faster than the normal physiological aging. At an epidemiological level this is a rare disease, affecting one in every four or eight newborns. By the time of elaboration of this monography there are no cure to this syndrome, and the therapy used in patients with progeria only treats the symptoms of the disease.
One of the most known progeroid syndromes is Progeria, also known as Hutchinson-Gilford Syndrome (HGPS). Hutchinson-Gilford Syndrome is a dominant autosomal genetical disease resulting from a mutation in the LMNA gene, located on chromosome 1, locus 1q21.2-q21.2 characterized by a prematurely aging, about seven times faster than the normal physiological aging. At an epidemiological level this is a rare disease, affecting one in every four or eight newborns. By the time of elaboration of this monography there are no cure to this syndrome, and the therapy used in patients with progeria only treats the symptoms of the disease.
Description
Dissertação para obtenção do grau de Mestre no Instituto Universitário Egas Moniz
Keywords
Sindrome Hutchinson – Gilford LMNA Envelhecimento precoce Laminopatias