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.)


TERMINOLOGY


Definitions



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


ETIOLOGY/PATHOGENESIS


Genetics



  • 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
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