Síndrome de Werner atípico: síndrome progeroide atípico
| Autor: | A. Barrios Sanjuanelo, C. Muñoz Otero |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics RJ1-570 Scleroderma Premature ageing syndrome Progeria Internal medicine medicine Atypical Werner syndrome Gene Werner syndrome Juvenile cataract biology business.industry nutritional and metabolic diseases Helicase medicine.disease Endocrinology Pediatrics Perinatology and Child Health Mutation (genetic algorithm) biology.protein Progeroid syndrome business Atypical |
| Zdroj: | Anales de Pediatría, Vol 73, Iss 2, Pp 94-97 (2010) |
| ISSN: | 1695-4033 |
| DOI: | 10.1016/j.anpedi.2010.02.012 |
| Popis: | Resumen: La progeria es un síndrome de envejecimiento precoz. El síndrome de Werner (SW) es un tipo de progeria del adulto que cursa con cataratas juveniles bilaterales y cambios esclerodermiformes cutáneos. Se produce a causa de la mutación del gen WRN que codifica una helicasa, enzima de reparación del ADN.Se presenta el caso de una paciente femenina de 12 años con características de SW, pero sin mutación identificable del gen WRN, por lo que se clasifica como SW atípico. Abstract: Progeria is a premature ageing syndrome. Werner Syndrome (WS) is a type of progeria in the adult which includes bilateral juvenile cataracts and cutaneous sclerodermiform changes; it is caused by a mutation if the WRN gene which codes a helicase, a DNA repair enzyme.A case is presented of a patient, a 12 year old girl, with characteristics of WS but with no identifiable mutation in the WRN gene, therefore it was classified as atypical Werner Syndrome (AWS). |
| Databáze: | OpenAIRE |
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