Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study

Nephron. 1990;55(1):74-7. doi: 10.1159/000185922.

Abstract

We present two sisters with nephronophthisis and pigmentary retinopathy (Senior-Loken syndrome) and associated liver fibrosis. Clinical and histological findings are discussed, as well as the importance of family studies. A comparative analysis with previous published cases is made; we found only three other references with this triad. Our report underlines the need to investigate liver disorders in all patients with nephronophthisis and the existence of liver fibrosis as an element of the hereditary 'nephronophthisis complex.'

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Kidney Diseases, Cystic / complications*
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / pathology
  • Liver Cirrhosis / complications*
  • Liver Cirrhosis / genetics
  • Liver Cirrhosis / pathology
  • Retinitis Pigmentosa / complications*
  • Retinitis Pigmentosa / genetics
  • Syndrome