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The lipodystrophies are a heterogeneous group of disorders of adipose tissue associated with insulin resistance. The sporadic form of partial lipodystrophy, characterised by fat loss from the face and upper body, is associated with complement abnormalities and mesangiocapillary glomerulonephritis type 2 (MCGN II) and the conditions are thought to have a shared autoimmune aetiology. We present the first case of the rare familial form of partial lipodystrophy, caused by a mutation in the LMNA gene, associated with MCGN II. This suggests that partial lipodystrophy of both the sporadic and familial subtypes may predispose to this condition and that the observed renal and complement abnormalities may be secondary to other factors associated with lipodystrophy.

Original publication

DOI

10.1159/000076396

Type

Journal article

Journal

Nephron Clin Pract

Publication Date

2004

Volume

96

Pages

c35 - c38

Keywords

Adult, Diabetes Mellitus, Type 2, Female, Genetic Predisposition to Disease, Glomerulonephritis, Membranoproliferative, Humans, Lamin Type A, Lipodystrophy, Mutation, Syndrome