Diffuse Mesangial Sclerosis



Diffuse Mesangial Sclerosis


Helen Liapis, MD

Joseph Gaut, MD, PhD










Classic late diffuse mesangial sclerosis (DMS) shows replacement of the mesangium with matrix image and podocyte proliferation forming a pseudocrescent image.






In DMS, the trichrome stain highlights mesangial collagen deposition and reveals the absence of capillary loops.


TERMINOLOGY


Abbreviations



  • Diffuse mesangial sclerosis (DMS)


Definitions



  • Glomerular disease early in life with characteristic mesangial accumulation of extracellular matrix and podocyte proliferation



    • Although most cases are idiopathic, a subset are caused by a variety of genetic and other factors


ETIOLOGY/PATHOGENESIS


Genetic Factors



  • WT1



    • Encodes Wilms tumor-1



      • Zinc finger transcription factor involved in regulating cellular proliferation and gonad and podocyte differentiation


    • Maps to chromosome 11p13


    • Mutations in exons 8 and 9 are occasionally associated with sporadic DMS


    • Exon 9 mutations typical of Denys-Drash syndrome



      • Hotspot in exon 9 R394W/Q/L


    • Intron 9 mutations typical of Frasier syndrome


  • PLCE-1



    • Encodes phospholipase C enzyme (PLC∈1) on chromosome 10q


    • Truncating mutations are associated with DMS


    • Nontruncating missense mutations are associated with FSGS


    • Inherited in autosomal recessive pattern


  • Gallaway-Mowat syndrome


  • Type 1 carbohydrate-deficient glycoprotein syndrome


  • Laminin-β2 mutations (Pierson syndrome)


Infectious Agents



  • Cytomegalovirus



    • DMS associated with cytomegalic inclusion bodies described in newborn with congenital nephrotic syndrome


CLINICAL ISSUES


Presentation



  • Nephrotic syndrome



    • Steroid resistant


    • < 2 years of age but may be as late as 4 years

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Diffuse Mesangial Sclerosis
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