Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association

We report a rare metabolic disorder, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, in a child who developed steroid-resistant nephrotic syndrome at the age of 5  years. Renal biopsy showed features of collapsing glomerulopathy. The child had progressive chronic kidney disease. Alternative immunosuppressants including tacrolimus failed to show any clinical improvement. There have been no reports of children with long-chain 3-hydroxyacyl-CoA dehydrogenase de ficiency developing steroid-resistant nephrotic syndrome and collapsing glomerulopathy. This case highlights the need to monitor renal function and proteinuria among this group of children.

Source: CEN Case Reports - February 12, 2019 Category: Urology & Nephrology Source Type: research