Article
Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.
Archives of endocrinology and metabolism - 10 May 2024
Morguetti Maria Julia, Neves Precil Diego Miranda de Menezes, Korkes Ilana, Padilha Wallace Stwart Carvalho, Jorge Lectícia Barbosa, Watanabe Andreia, Watanabe Elieser Hitoshi, Malheiros Denise Maria Avancini Costa, Noronha Irene de Lourdes, Dib Sergio Atala, Onuchic Luiz Fernando, Moisés Regina S
Abstract excerpt
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...
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