Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

Nefrologia. 2017 Jan-Feb;37(1):87-92. doi: 10.1016/j.nefro.2016.04.007. Epub 2016 Aug 29.
[Article in English, Spanish]

Abstract

We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TS as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TS was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment.

Keywords: ADPKD; Angiomiolipoma; Angiomyolipoma; Autosomal dominant polycystic kidney disease; Contiguous gene syndrome; Esclerosis tuberosa; Inhibidores de mTOR; PQRAD; Poliquistosis renal autosómica dominante; Síndrome de genes contiguos; TSC2/PKD1; Tuberous sclerosis; mTOR inhibitors.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angiomyolipoma / complications*
  • Angiomyolipoma / diagnostic imaging
  • Angiomyolipoma / genetics
  • Angiomyolipoma / surgery
  • Embolization, Therapeutic
  • Hematoma / diagnostic imaging
  • Hematoma / etiology*
  • Hematoma / pathology
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Interferon-gamma / deficiency*
  • Interferon-gamma / genetics
  • Kidney / diagnostic imaging
  • Kidney / pathology
  • Kidney Diseases, Cystic / complications*
  • Kidney Diseases, Cystic / diagnostic imaging
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / surgery
  • Kidney Neoplasms / complications*
  • Kidney Neoplasms / diagnostic imaging
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / surgery
  • Kidney Transplantation
  • Male
  • Polycystic Kidney, Autosomal Dominant / complications*
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polycystic Kidney, Autosomal Dominant / surgery
  • Syndrome
  • TRPP Cation Channels / genetics*
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / diagnostic imaging
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / surgery
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics*

Substances

  • Immunosuppressive Agents
  • TRPP Cation Channels
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • polycystic kidney disease 1 protein
  • Interferon-gamma

Supplementary concepts

  • Tsc2 Angiomyolipomas, Renal, Modifier Of