Berardinelli-Seip syndrome in peritoneal dialysis

Nefrologia. 2015;35(5):493-6. doi: 10.1016/j.nefro.2015.08.002. Epub 2015 Sep 19.
[Article in English, Spanish]

Abstract

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.

Keywords: Berardinelli-Seip syndrome; Chronic kidney disease; Diabetic nephropathy; Diálisis peritoneal; Enfermedad renal crónica; Nefropatía diabética; Peritoneal dialysis; Síndrome de Berardinelli-Seip.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Acromegaly / etiology
  • Cardiomyopathy, Hypertrophic / etiology
  • Child
  • Delayed Diagnosis
  • Diabetic Nephropathies / diagnosis
  • Diabetic Nephropathies / therapy
  • Diagnosis, Differential
  • Exons / genetics
  • Female
  • GTP-Binding Protein gamma Subunits / genetics
  • Glomerulonephritis, Membranoproliferative / diagnosis
  • Glomerulonephritis, Membranoproliferative / etiology
  • Glomerulonephritis, Membranoproliferative / therapy
  • Humans
  • Insulin Resistance
  • Leptin / therapeutic use
  • Lipodystrophy, Congenital Generalized* / complications
  • Lipodystrophy, Congenital Generalized* / diagnosis
  • Lipodystrophy, Congenital Generalized* / genetics
  • Peritoneal Dialysis, Continuous Ambulatory*

Substances

  • BSCL2 protein, human
  • GTP-Binding Protein gamma Subunits
  • Leptin