Sangrado de angiomiolipoma renal en paciente con síndrome de genes contiguos (TSC2/PKD1) tras 17 años de tratamiento renal sustitutivo

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.

Renal Angiomyolipomatosis and Bleeding Aneurysms in a Tuberous Sclerosis Context: Selective Artery Embolization in a Girl with End-Stage Renal Failure

“… 10 According to Krueger et al 2013, selective AE may be considered the first line therapy for AML presenting with acute hemorrhage 14 and nephrectomy should be avoided, 14 except in selected cases. 22 , 24-26 Recently, new immunosuppressive strategies, such as mTOR inihibitors 15 , 19-24 have been proposed for asymptomatic growing AML This strategy should reduce the size of the AML and the risk of rupture and bleeding, also in patients with end stage renal failure. 19 …”

“… 22 , 24-26 Recently, new immunosuppressive strategies, such as mTOR inihibitors 15 , 19-24 have been proposed for asymptomatic growing AML This strategy should reduce the size of the AML and the risk of rupture and bleeding, also in patients with end stage renal failure. 19 …”

“…The risk of AML rupture is not exclusively associated with the lesion size; however, to limit the risk of retroperitoneal haemorrhage, prophylactic immunosuppressive interventions are recommended for AML with a diameter of >3 cm. 19-24 However, the efficacy and tolerability of everolimus in hemodialysis patients, with end-stage renal disease, remains controversial because the condition is thought to alter drug pharmacokinetics. 28-33 Thus, we chose not to utilize this treatment in our patient.…”

Beyond polycystic kidney disease

“…Patients who will require renal transplantation in the future may benefit from mTOR inhibitors, which are immunosuppressive agents that reduce the size of benign tumours in TS as well as the risk of rupture and bleeding. 18 Most cases described in the literature refer to patients diagnosed with TS in which, during the follow-up of their disease, bilateral kidney cysts are detected. In our patient, the chronological order was different: there was a follow-up for PKD without family history or genetic study, and the latter detection of cutaneous lesions led to suspicion of TS.…”

Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous sclerosis complex: a case report

“…TSC2/PKD1 contiguous gene syndrome (CGS), which is caused by a chromosomal mutation that disrupts both the TSC2 and PKD1 genes, has been identified in patients with TSC and severe early-onset ADPKD [1]. Several reports characterized TSC2/PKD1 CGS as a severe polycystic kidney growth with onset and end-stage renal failure at an early age [2–4]. Therefore, patients with constitutional deletions involving the TSC2 and PKD1 genes were suggested to have poor prognosis of their renal function.…”