S JAHAN1, J BREALEY2, J NOLAN2, T COATES1
1Royal Adelaide Hospital, Adelaide, Australia, 2Anatomical Pathology, Adelaide, Australia
Background: TREX1 (Three Prime Repair Exonuclease 1) is a protein coding gene associated with retinal vasculopathy with cerebral leukoencephalopathy (RVCL) with no known treatment or cure.
Case report: TA was diagnosed with a retinal vasculopathy after a routine eye check. TA’s aunt was diagnosed with cerebral leukoencephalopathy. She underwent genetic testing which returned with the mutation in TREX1. TA’s mother had chronic kidney disease of unknown aetiology and died from cerebral leukoencephalopathy. With TA’s retinal vasculopathy and significant family history, TA also underwent genetic testing and was found to have the mutation. MRI brain was negative for cerebral leukoencephalopathy and routine blood tests showed a rise in creatinine up to 122 µmol/L and proteinuria of 500mg over 24 hours. He therefore underwent a kidney biopsy which showed changes in keeping with this evolving entity. There was variable glomerular change seen as thickening and double contouring of capillary walls together with mesangial prominence by light microscopy. There was also mesangial interposition, mesangial expansion and sparse mesangial electron-dense deposits and subendothelial remodelling in the capillary walls on electron microscopy. Podocytes displayed mild microvillous transformation, swelling, blebbing and approximately 40-50% foot process effacement. TA is currently under close surveillance.
Conclusions: TREX1 mutation leads to small vessel vascular disease and is a rare cause of renal failure. A vigilant family history and careful pathology scrutiny was essential in ascertaining the link in this case.
Sadia Jahan is a young enthusiastic nephrology trainee with great interest in Transplantation and its associated art. She graduated from University College London UK and has since worked in UK and numerous states in Australia gaining knowledge and experience along the way. She wants to make a difference in the Nephrology world and looks forward to achieving this when she is older and wiser with guidance from some distinguished mentors.