Diabetes lipoatrófica. Un reto terapéutico |
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Authors: | L Martins Ribeiro S Martins M João Oliveira H Cardoso T Silva Borges |
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Institution: | Unidade de Endocrinologia Pediátrica, Serviço de Pediatria, Centro Hospitalar do Porto, Porto, Portugal |
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Abstract: | Congenital generalised lipodystrophy is a rare autosomal recessive disorder characterised by a marked deficiency 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 findings, in the first year of life. The established diagnosis was then confirmed 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 reflect on the best therapeutic management of this pathology. |
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