Absence of renal phenotype in hereditary haemorrhagic telangiectasia

Intern Med J. 2018 Oct;48(10):1255-1257. doi: 10.1111/imj.14059.

Abstract

Hereditary haemorrhagic telangiectasia is characterised by abnormal blood vessel formation, producing telangiectasia and arteriovenous malformations in multiple organs. Information regarding possible renal involvement in hereditary haemorrhagic telangiectasia is limited. This study assessed renal structure and function in 11 patients with genetically confirmed diagnosis and known arteriovenous malformations in lung, liver, gastrointestinal tract or brain. All had significant current or past epistaxis. Despite the vascularity of the kidneys, we found no evidence of renal involvement. This observation warrants further consideration.

Keywords: arteriovenous malformation; hereditary haemorrhagic telangiectasia; renal.

MeSH terms

  • Adult
  • Arteriovenous Malformations / complications
  • Arteriovenous Malformations / diagnosis*
  • Arteriovenous Malformations / genetics
  • Female
  • Genetic Testing
  • Humans
  • Kidney / abnormalities*
  • Kidney / diagnostic imaging
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics
  • Phenotype
  • Risk Factors
  • Telangiectasia, Hereditary Hemorrhagic / complications
  • Telangiectasia, Hereditary Hemorrhagic / diagnosis*
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Ultrasonography