Why the study?
The diagnosis of rare causes of nephrotic syndrome such as LCAT deficiency requires collaboration between clinicians and pathologists and genetic testing.
Case Report (n=1)
This case highlights the critical role of clinicopathologic correlation and genetic testing in diagnosing rare causes of nephrotic syndrome such as LCAT deficiency.
A 30 year old Uzbek male presented with steroid-resistant nephrotic syndrome, renal dysfunction, corneal clouding, hypertriglyceridemia, and very low HDL. Renal biopsy revealed a classic foamy appearance of the glomerulus suggestive of Lecithin-cholesterol acyltransferase (LCAT) deficiency. Genetic testing confirmed a homozygous mutation in the LCAT gene. Steroids and azathioprine were withdrawn. The case highlights the importance of collaboration between clinicians and pathologists and importance of genetic testing in achieving the diagnosis of a rare cause of nephrotic syndrome.
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Sawhney et al. (2026) conducted a case report in Lecithin-cholesterol acyltransferase (LCAT) deficiency presenting as steroid-resistant nephrotic syndrome (n=1). Diagnostic renal biopsy and genetic testing was evaluated.
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