Early-onset lipoprotein glomerulopathy in a 23-month-old boy with homozygous APOE Kyoto variant.
Julia S Donald, Hugh J McCarthy, Ali Moghimi et al.
✦ AI-curated · Sources linked
Case in brief
A 23-month-old boy presented with nephrotic syndrome and severe anaemia. A family history of kidney disease, parental consanguinity and enlarged echogenic kidneys on ultrasound prompted early renal biopsy, which showed lipoprotein glomerulopathy. Genetic testing identified homozygosity for the APOE Kyoto variant, leading clinicians to stop prednisolone. After lipid-lowering therapy was started, he improved rapidly.
What made this case unusual
The presentation in a 23-month-old boy with homozygous APOE Kyoto variant highlights an early-onset phenotype of lipoprotein glomerulopathy.
Diagnostic / clinical pearl
In a child with atypical nephrotic syndrome, family history, consanguinity or enlarged echogenic kidneys may support early biopsy and genetic testing to identify lipoprotein glomerulopathy and guide targeted management.