title: [Partial lipodystrophy in two HLA identical sisters with hypocomplementemia and nephropathy].
abstract: Partial lipodystrophy is a rare disorder with both autosomal recessive and familial forms. The cutaneous findings, which are often subtle, consist of gradual loss of subcutaneous fat from the face and upper body. Low levels of C3 and the presence of C3NeF help to identify these patients. Associated systemic abnormalities include the development of membranoproliferative glomerulonephritis, insulin resistance and an increased incidence of autoimmune diseases. We report here two HLA identical sisters with the typical features of partial lipodystrophy associated with recurrent infections, low levels of C3, and nephropathy. Our data suggest an autosomal recessive transmission. We discuss the genetic and molecular basis of this rare association.
authors.affiliation: Servicio de Nefrología, Hospital Central de Asturias, Oviedo. cpeces@varnet.com
authors.forename: R
authors.initials: R
authors.lastname: Peces
mesh_terms: D000273:Adipose Tissue / Q000002:abnormalities; D000293:Adolescent; D000328:Adult; D003176:Complement C3 / Q000172:deficiency* / Q000235:genetics; D005260:Female; D015432:Glomerulonephritis, Membranoproliferative / Q000150:complications* / Q000235:genetics; D006680:HLA Antigens / Q000032:analysis*; D006801:Humans; D008060:Lipodystrophy / Q000150:complications* / Q000235:genetics
chemical_list: D003176:Complement C3; D006680:HLA Antigens