Diabetes lipoatrófica: Un reto terapéutico

• Autores: L. Martins Ribeiro, Sandra S. Martins, Maria João Oliveira, Hélder Cardoso, T. Silva Borges
• Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN-e 1696-4608, ISSN 1695-4033, Vol. 78, Nº. 1, 2013, págs. 54-58
• Idioma: español
• Títulos paralelos:
  • Lipoatrophic diabetes: a therapeutic challenge
• Enlaces
  • Texto completo (pdf)
• Resumen

  • Abstract Congenital generalised lipodystrophy is a rare autosomal recessive disorder characterised by a marked de?ciency of adipose tissue and usually recognised at birth. This disorder is associated with early development of metabolic complications such as hypertriglyceridemia, hepatic steatosis, and insulin resistance. These complications ultimately lead to fatal events as a consequence of early atherosclerosis,lipoatrophic diabetes and hepatic cirrhosis. The authors report the case of a patient diagnosed, based on clinical and laboratory ?ndings, in the ?rst year of life. The established diagnosis was then con?rmed by identifying a mutation in the BSCL2 gene. Because the hypertriglyceridemia and diabetes were refractory to treatment, the authors present this case in order to re?ect on the best therapeutic management of this pathology.