ABSTRACT
Se describe el caso de una paciente con síndrome de Berardinelli-Seip, un tipo de lipodistrofia congénita generalizada, que inició a los 20 años, con marcada resistencia insulínica y complicaciones micro- y macroangiopáticas, entre ellas una enfermedad renal crónica que la ha llevado a iniciar tratamiento renal sustitutivo en la modalidad de diálisis peritoneal. Para ello llevamos un repaso de la historia de la paciente desde la edad pediátrica (momento en el que ya aparecen los primeros signos de la enfermedad) hasta la actualidad. Más allá de lo infrecuente de esta enfermedad, es de destacar que lo excepcional del caso es que se trata del único caso (al menos registrado en la literatura) de pacientes afectos de síndrome de Berardinelli-Seip en programa de diálisis (AU)
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 aswell as micro- and macro-angiopathic complications, including chronic kidney disease, which required renal replacement therapy with peritoneal dialysis. The patients clinical course was reviewed since paediatric age (when initial signs of the disease being already evident) to present time. Berardinelli-Seip syndromeis 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 (AU)
Subject(s)
Female , Humans , Middle Aged , Lipodystrophy, Congenital Generalized/complications , Renal Insufficiency, Chronic/complications , Peritoneal Dialysis , Diabetic Angiopathies/complicationsABSTRACT
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.
