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Lipoprotein glomerulopathy: a rare cause of steroid-resistant nephrotic syndrome in a child.

Kinnari B ValaKanisha ShahShahenaz KapadiaMahipal KhandelwalAmit JojeraShailesh SoniAshka PrajapatiAnshuman Saha
Published in: CEN case reports (2024)
Lipoprotein glomerulopathy (LPG) is a rare condition of renal lipidosis characterized by lipoprotein thrombi in glomeruli, an abnormal plasma lipoprotein profile, and a marked increase in serum apolipoprotein E (apo E) levels. It is a monogenic disorder with autosomal dominant inheritance and the average age of presentation is 32 years (4-69 years). It is rare in children. The presentation can be nephrotic syndrome, hematuria, or progressive renal failure. Here we report the first described case of LPG in an Indian 7.5-year-old boy who presented with steroid-resistant nephrotic syndrome with normal renal function. A renal biopsy was suggestive of lipoprotein glomerulopathy. The detection of a pathogenic variant in apo E, Kyoto type, by exome sequencing, confirmed the diagnosis of lipoprotein glomerulopathy. Complete response was achieved with Angiotensin-converting Enzyme inhibitor and fenofibrates.
Keyphrases
  • low density lipoprotein
  • angiotensin converting enzyme
  • angiotensin ii
  • multiple sclerosis
  • single cell
  • gene expression
  • copy number
  • mitochondrial dna
  • dna methylation
  • genome wide
  • label free
  • fine needle aspiration