Astrid Weins (@AstridWeins) renal pathologist at the Brigham and Woman’s Hospital and Harvard Medical School
Editor:
Nayan Aurora
Show Notes:
Summary of minimal change disease according to the orthodoxy: Light microscopy of renal biopsy specimens from patients with MCD shows minimal to no change; however, electron microscopy reveals the effacement of podocyte foot processes. To add to the conundrum, immunofluorescent staining of biopsy specimens is negative, and no immune complexes are evident.
Most of these patients have a homozygous truncating mutation (Fin-major mutation) in the nephrin gene (NPHS1), leading to total absence of the major podocyte protein, nephrin. After RTx, these patients develop anti-nephrin antibodies resulting in nephrotic range proteinuria.