Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases

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....

Full description

Saved in:

Bibliographic Details
Published in:	Archives of Endocrinology and Metabolism Vol. 68; p. e230204
Main Authors:	Julia Morguetti, Maria, Neves, Precil Diego Miranda de Menezes, Korkes, Ilana, Carvalho Padilha, Wallace Stwart, Barbosa Jorge, Lectícia, Watanabe, Andreia, Watanabe, Elieser Hitoshi, Costa Malheiros, Denise Maria Avancini, Irene, de Lourdes Noronha, Atala Dib, Sergio, Onuchic, Luiz Fernando, Moisés, Regina S
Format:	Journal Article
Language:	English
Published:	Brazil Sociedade Brasileira de Endocrinologia e Metabologia 10-05-2024 Brazilian Society of Endocrinology and Metabolism
Subjects:	Adult Case Report Female Humans Lamin Type A - genetics Lipodystrophy, Familial Partial - complications Lipodystrophy, Familial Partial - genetics Male Mutation Podocytes - pathology
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
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. 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.
Bibliography:	Disclosure: no potential conflict of interest relevant to this article was reported.
ISSN:	2359-3997 2359-4292
DOI:	10.20945/2359-4292-2023-0204