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Nefrología (Madrid)
versão On-line ISSN 1989-2284versão impressa ISSN 0211-6995
Resumo
BANDE-FERNANDEZ, José Joaquín et al. Berardinelli-Seip syndrome in peritoneal dialysis. Nefrología (Madr.) [online]. 2015, vol.35, n.5, pp.493-496. ISSN 1989-2284. https://dx.doi.org/10.1016/j.nefro.2015.08.002.
A case of Berardinelli-Seip syndrome, a congenital generalised lipodystrophy, is reported. Symptoms first appeared when the patient was 20 years old. She showed severe insulin resistance as well as micro- and macro-angiopathic complications, including chronic kidney disease, which required renal replacement therapy with peritoneal dialysis. The patient's clinical course was reviewed since paediatric age (when initial signs of the disease being already evident) to present time. Berardinelli-Seip syndrome is very uncommon, and the present case is particularly rare because it is the only case (at least as reported in the literature) in a patient receiving dialysis.
Palavras-chave : Berardinelli-Seip syndrome; Chronic kidney disease; Diabetic nephropathy; Peritoneal dialysis.