Owen Katharine R, Donohoe Mollie, Ellard Sian, Clarke Tom J, Nicholls Anthony J, Hattersley Andrew T, Bingham Coralie
Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK.
Nephron Clin Pract. 2004;96(2):c35-8. doi: 10.1159/000076396.
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.
脂肪营养不良是一组与胰岛素抵抗相关的脂肪组织异质性疾病。散发性部分脂肪营养不良的特征是面部和上身脂肪流失,与补体异常和2型系膜毛细血管性肾小球肾炎(MCGN II)相关,并且认为这些病症具有共同的自身免疫病因。我们报告了首例由LMNA基因突变引起的罕见家族性部分脂肪营养不良病例,该病例与MCGN II相关。这表明散发性和家族性亚型的部分脂肪营养不良都可能易患这种病症,并且观察到的肾脏和补体异常可能继发于与脂肪营养不良相关的其他因素。