Podocin Deficiency

Podocin Deficiency

Helen Liapis, MD

Joseph Gaut, MD, PhD

A 10-year-old boy previously diagnosed with minimal change disease had persistent proteinuria of 3 g/d. A repeat biopsy showed perihilar FSGS. Podocin was undetectable by immunofluorescence.

In this case of podocin deficiency, the glomerular capillary loops show diffuse foot process effacement image. (Courtesy L. Barisoni-Thomas, MD.)



  • Inherited or sporadic steroid-resistant nephrotic syndrome secondary to mutations in NPHS2 gene



  • Mutation in NPHS2

    • Encodes podocin

      • Important for maintaining podocyte foot process structure and signaling

      • Interacts with nephrin and CD2AP to form part of slit diaphragm

    • Autosomal recessive inheritance

      • Maps to chromosome 1q25-q31

      • > 50 mutations reported to date

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Podocin Deficiency

Full access? Get Clinical Tree

Get Clinical Tree app for offline access