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A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C>A: p. (Ala170Asp).
J Clin Lipidol
December 2024
Department of Internal Medicine, Erasmus MC Cardiovascular Institute, University Medical Center Rotterdam, Rotterdam, the Netherlands. Electronic address:
This report describes a rare case of lipoprotein glomerulopathy. A 63 year-old man presented with nephrotic syndrome unresponsive to rituximab and tacrolimus. Blood tests showed a mild- to moderate hypertriglyceridemia suggesting familial dysbetalipoproteinemia (FD).
View Article and Find Full Text PDFImpact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.
J Atheroscler Thromb
January 2025
Apolipoprotein E (apoE) is a key apoprotein in lipid transport and is susceptible to genetic mutations. ApoE variants have been studied for four decades and more than a hundred of them have been reported. This paper presents an up-to-date review of the function and structure of apoE in lipid metabolism, the E2, E3, and E4 isoforms, the APOE gene, and various pathologies, such as familial type III hyperlipidemia and lipoprotein glomerulopathy, caused by apoE variants.
View Article and Find Full Text PDFFenofibrate in Lipoprotein Glomerulopathy: A 20-Year Long Resolution.
Int J Surg Pathol
November 2024
Lipoapheresis Unit, Reference Center for Diagnosis and Treatment of Inherited Dyslipidemias. Fondazione Toscana Gabriele Monasterio, Pisa, Italy.
First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome.
Nephrology (Carlton)
December 2024
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan Province, China.
Article Synopsis
- - Alport syndrome (AS) is a common genetic kidney disorder resulting from mutations in COL4A3, COL4A4, and COL4A5 genes, leading to abnormal collagen IV structure and function.
- - Lipoprotein glomerulopathy (LPG) is another inherited condition linked to mutations in the APOE gene, affecting lipid metabolism.
- - A case is reported of an 11-year-old girl with both AS and LPG, exhibiting various symptoms and laboratory findings, and genetic tests identified specific pathogenic variants; the study highlights the need for early renal biopsy and whole-exome sequencing for accurate diagnosis.
Lipoprotein glomerulopathy with a novel apolipoprotein E variant, APOE Kanto (Asp 151dup).
CEN Case Rep
August 2024
Sanko Clinic, Fukuoka, Japan.
A 33-year-old Japanese man was admitted for possible kidney disease because of massive proteinuria. Laboratory findings were characterized by marked urinary protein of 4.7 g/day and high-serum triglyceride levels of 266 mg/dL.
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