title: Berardinelli-Seip syndrome in peritoneal dialysis.
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.
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: José Joaquín
authors.initials: JJ
authors.lastname: Bande-Fernández
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: Raúl
authors.initials: R
authors.lastname: García-Castro
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España. Electronic address: jesastur@hotmail.com.
authors.forename: José Emilio
authors.initials: JE
authors.lastname: Sánchez-Alvarez
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: Carmen
authors.initials: C
authors.lastname: Rodríguez-Suárez
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: Diego
authors.initials: D
authors.lastname: Coronel-Aguilar
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: Carlos
authors.initials: C
authors.lastname: Hidalgo
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Istanbuli
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: Carmen
authors.initials: C
authors.lastname: Merino-Bueno
authors.affiliation: Servicio de Nefrología, Hospital Universitario Central de Asturias, Oviedo, Asturias, España.
authors.forename: Laura
authors.initials: L
authors.lastname: Del Rio-García
mesh_terms: D000172:Acromegaly / Q000209:etiology; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology; D002648:Child; D057210:Delayed Diagnosis; D003928:Diabetic Nephropathies / Q000175:diagnosis / Q000628:therapy; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics; D015432:Glomerulonephritis, Membranoproliferative / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006801:Humans; D007333:Insulin Resistance; D020738:Leptin / Q000627:therapeutic use; D052497:Lipodystrophy, Congenital Generalized / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D010531:Peritoneal Dialysis, Continuous Ambulatory
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D020738:Leptin
keywords: Berardinelli-Seip syndrome; Chronic kidney disease; Diabetic nephropathy; Diálisis peritoneal; Enfermedad renal crónica; Nefropatía diabética; Peritoneal dialysis; Síndrome de Berardinelli-Seip