Nefrología (English Edition) (Sep 2015)

Berardinelli-Seip syndrome in peritoneal dialysis

  • José Joaquín Bande-Fernández,
  • Raúl García-Castro,
  • José Emilio Sánchez-Alvarez,
  • Carmen Rodríguez-Suárez,
  • Diego Coronel-Aguilar,
  • Carlos Hidalgo,
  • Beatriz Istanbuli,
  • Carmen Merino-Bueno,
  • Laura del Rio-García

DOI
https://doi.org/10.1016/j.nefroe.2015.11.005
Journal volume & issue
Vol. 35, no. 5
pp. 493 – 496

Abstract

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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.

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