Glomerulocystic Disease



Glomerulocystic Disease


Aleksandr Vasilyev, MD, PhD

Anthony Chang, MD





Key Facts


Terminology



  • 2-3x dilatation of Bowman space, > 5% of glomeruli in absence of other kidney diseases


  • GCKD reserved for uromodulin or HNF1β mutations


Etiology/Pathogenesis



  • GCKD



    • HNF1β mutation (TCF1)


    • Uromodulin mutation (UMOD)


  • Secondary glomerular cysts in many diseases


Microscopic Pathology



  • Dilation of Bowman capsule


  • Glomerulus on side of cyst (atubular glomeruli)


  • No connection with proximal tubule


Top Differential Diagnoses



  • ADPKD and ARPKD


  • Nephronophthisis


  • Cystic renal dysplasia







Bisected kidney with GCKD from 20-week-old fetus is shown. There are numerous small cysts throughout the cortical renal parenchyma.






Glomerulocystic kidney has markedly dilated Bowman capsules containing glomerular tufts separated by small tubules. No connection to the proximal tubules is evident. Little or no inflammation is present.


TERMINOLOGY


Abbreviations



  • Glomerulocystic kidney disease (GCKD)


  • Glomerulocystic kidney (GCK) refers to pattern of injury irrespective of cause


Synonyms



  • Autosomal dominant glomerulocystic kidney disease (ADGCKD)


Definitions



  • Cystic dilatation of Bowman space to 2-3x normal, > 5% of glomeruli in absence of other kidney diseases


  • Glomerulocystic kidneys are divided into 5 clinicopathologic categories



    • 1: Familial


    • 2: Associated with other hereditary diseases


    • 3: Syndromic nonhereditary


    • 4: Sporadic


    • 5: Acquired


  • GCKD reserved for diseases caused by mutations in uromodulin or HNF1β genes


ETIOLOGY/PATHOGENESIS

Tags:
Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Glomerulocystic Disease

Full access? Get Clinical Tree
Get Clinical Tree app for offline access