[Partial lipodystrophy in two HLA identical sisters with hypocomplementemia and nephropathy].
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.
Peces
R
R
Servicio de Nefrología, Hospital Central de Asturias, Oviedo. cpeces@varnet.com
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
D003176:Complement C3; D006680:HLA Antigens