TSC2/PKD1 contiguous gene syndrome in an adult

Minerva Urol Nefrol. 2006 Dec;58(4):351-4.

Abstract

A 48-year-old woman with a history of autosomal-dominant polycystic kidney disease (ADPKD), was found to have multiple renal angiomyolipomas on a pathological examination after nephrectomy. The clinical and pathological presentation is consistent with the diagnosis of TSC2/PKD1 contiguous gene syndrome, caused by the simultaneous loss of TSC2 and PKD1, the two major genes for tuberous sclerosis complex and ADPKD.

Publication types

  • Case Reports

MeSH terms

  • Angiomyolipoma / diagnosis
  • Angiomyolipoma / genetics*
  • Angiomyolipoma / pathology
  • Chromosomes, Human, Pair 16
  • Female
  • Gene Deletion
  • Humans
  • Middle Aged
  • Nephrectomy
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / diagnosis
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Polycystic Kidney, Autosomal Dominant / surgery
  • Syndrome
  • TRPP Cation Channels*
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis / surgery
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics*

Substances

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