Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases
Maria Julia Morguetti,
Precil Diego Miranda de Menezes Neves,
Ilana Korkes
et al.
Abstract:SUMMARY
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. … Show more
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