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

Overview of attention for article published in Archives of Endocrinology and Metabolism, May 2024
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Title
Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases
Published in
Archives of Endocrinology and Metabolism, May 2024
DOI 10.20945/2359-4292-2023-0204
Pubmed ID
Authors

Maria Julia Morguetti, Precil Diego Miranda de Menezes Neves, Ilana Korkes, Wallace Stwart Carvalho Padilha, Lectícia Barbosa Jorge, Andreia Watanabe, Elieser Hitoshi Watanabe, Denise Maria Avancini Costa Malheiros, Irene de Lourdes Noronha, Sergio Atala Dib, Luiz Fernando Onuchic, Regina S. Moisés

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.

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Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 14 May 2024.
All research outputs
#17,825,542
of 26,106,397 outputs
Outputs from Archives of Endocrinology and Metabolism
#357
of 809 outputs
Outputs of similar age
#131,083
of 256,575 outputs
Outputs of similar age from Archives of Endocrinology and Metabolism
#1
of 3 outputs
Altmetric has tracked 26,106,397 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 809 research outputs from this source. They receive a mean Attention Score of 3.3. This one is in the 39th percentile – i.e., 39% of its peers scored the same or lower than it.
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We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them