PDF(Pubmed)
Abstract：
Lipodystrophies are characterized by complete or selective loss of adipose tissue and can be acquired or inherited. Familial partial lipodystrophy (FPLD) is a hereditary lipodystrophy commonly caused by mutations in the LMNA gene. Herein, we report two cases of FPLD associated with podocytopathies. Patient 1 was diagnosed with FPLD associated with the heterozygous p.Arg482Trp variant in LMNA and had normal glucose tolerance and hyperinsulinemia. During follow-up, she developed nephroticrange proteinuria. Renal biopsy was consistent with minimal change disease. Patient 2 was diagnosed with FPLD associated with a de novo heterozygous p.Arg349Trp variant in LMNA. Microalbuminuria progressed to macroalbuminuria within 6 years and tonephrotic range proteinuria in the last year. He remained without diabetes and with hyperinsulinemia. Renal biopsy revealed focal segmental glomerulosclerosis not otherwise specified. This report provides further evidence of variable features of lipodystrophy associated with LMNA variants and the importance of long-term follow-up with evaluation of kidney dysfunction.
摘要：
脂肪营养不良的特征在于脂肪组织的完全或选择性损失,并且可以是获得性或遗传性的。家族性部分脂肪营养不良（FPLD）是一种遗传性脂肪营养不良，通常由LMNA基因突变引起。在这里，我们报告了2例与足细胞病相关的FPLD。患者1被诊断患有与LMNA中的杂合子p.Arg482Trp变体相关的FPLD,并且具有正常的葡萄糖耐量和高胰岛素血症。随访期间,她出现了肾病性蛋白尿。肾活检与微小病变一致。患者2被诊断患有与LMNA中的从头杂合p.Arg349Trp变体相关的FPLD。微量白蛋白尿在6年内发展为大量白蛋白尿，并在去年发展为透生性蛋白尿。他没有糖尿病和高胰岛素血症。肾活检显示局灶性节段肾小球硬化，未另作说明。该报告提供了与LMNA变异相关的脂肪营养不良的可变特征的进一步证据，以及评估肾功能不全的长期随访的重要性。
