mTORC Pathway Activation and Effect of Sirolimus on Native Kidney Antiphospholipid Syndrome Nephropathy: A Case Report

Am J Kidney Dis. 2020 Aug;76(2):288-291. doi: 10.1053/j.ajkd.2019.08.032. Epub 2019 Dec 4.

Abstract

Despite optimal anticoagulation and blood pressure control, patients with antiphospholipid syndrome (APS) nephropathy frequently progress to kidney failure, and recurrence after transplantation is common. The mTORC (mechanistic target of rapamycin complex) pathway was recently identified as a potential intermediate and a therapeutic target in vascular lesions associated with APS nephropathy. However, these results were derived from the retrospective analysis of a small cohort of patients receiving sirolimus after kidney transplantation. Therefore, they warranted external validation and the demonstration of the potential benefit of sirolimus in native kidney APS nephropathy. We report a patient with active APS nephropathy lesions occurring on native kidneys, in which endothelial mTORC activation was substantiated at the molecular level. Treatment with sirolimus was shown on a repeat kidney biopsy to successfully inhibit the AKT/mTORC pathway and was associated with significant improvement in kidney function and lesions of vasculopathy. Drug tolerance was excellent during the entire follow-up. This case validates and extends previous observations in kidney transplant recipients and demonstrates that endothelial activation of the AKT/mTORC pathway occurs in the damaged renal vasculature of native kidneys in APS nephropathy. These findings further support the potential of precision medicine and the use of mTORC activation as a biomarker of disease activity and as therapeutic target in patients with APS nephropathy.

Keywords: AKT/mTORC pathway; APS nephropathy; Antiphospholipid syndrome (APS); case report; chronic kidney disease (CKD); kidney biopsy; mTORC pathway; native kidney; phosphorylation; renal lesions; sirolimus; vasculopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Angiotensin-Converting Enzyme Inhibitors / therapeutic use
  • Anticoagulants / therapeutic use
  • Antiphospholipid Syndrome / complications
  • Antiphospholipid Syndrome / drug therapy*
  • Antiphospholipid Syndrome / metabolism
  • Female
  • Humans
  • Immunosuppressive Agents / therapeutic use*
  • Mechanistic Target of Rapamycin Complex 1 / metabolism*
  • Mechanistic Target of Rapamycin Complex 2 / metabolism*
  • Microscopy, Confocal
  • Proto-Oncogene Proteins c-akt / metabolism
  • Ramipril / therapeutic use
  • Renal Insufficiency, Chronic / drug therapy*
  • Renal Insufficiency, Chronic / etiology
  • Renal Insufficiency, Chronic / metabolism
  • Renal Insufficiency, Chronic / pathology
  • Ribosomal Protein S6 / metabolism
  • Signal Transduction
  • Sirolimus / therapeutic use*
  • TOR Serine-Threonine Kinases / antagonists & inhibitors*
  • Thrombotic Microangiopathies / etiology
  • Thrombotic Microangiopathies / metabolism
  • Thrombotic Microangiopathies / pathology
  • Treatment Outcome

Substances

  • Angiotensin-Converting Enzyme Inhibitors
  • Anticoagulants
  • Immunosuppressive Agents
  • Ribosomal Protein S6
  • Mechanistic Target of Rapamycin Complex 1
  • Mechanistic Target of Rapamycin Complex 2
  • Proto-Oncogene Proteins c-akt
  • TOR Serine-Threonine Kinases
  • Ramipril
  • Sirolimus