Familial MPGN - a case series: a clinical description of familial membranoproliferative glomerulonephritis amongst three Irish families

Ren Fail. 2014 Sep;36(8):1333-6. doi: 10.3109/0886022X.2014.931681. Epub 2014 Jun 30.

Abstract

Genetic factors have been implicated in the pathogenesis of certain cases of MPGN. Familial cases of all three histological subtypes have been described. Genetic defects in the control of complement pathways appear to be at the root of many hereditary forms of MPGN. Here we describe a series of three families with familial MPGN. We have identified 3 individuals with a diagnosis of idiopathic MPGN, each with a sibling with the same diagnosis. Data collected included age at presentation, histological findings and age at commencement of renal replacement therapy. A family pedigree was generated for each family as well as a description of the long-term clinical course and transplant outcomes of affected individuals. We have identified male and female affected individuals in this series of three families. The progression to end-stage kidney disease was universal amongst affected individuals. The majority of cases were successfully transplanted. Recurrence in a transplanted kidney occurred in only one individual. This series of familial MPGN provides further evidence for a genetic basis for the disease. Additional studies on these three families will further our knowledge of the underlying mutations in hereditary MPGN and contribute to the understanding of complement-mediated renal disease.

Keywords: Case series; complement; familial; hereditary; membranoproliferative glomerulonephritis.

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Glomerulonephritis, Membranoproliferative / diagnosis
  • Glomerulonephritis, Membranoproliferative / genetics*
  • Humans
  • Ireland
  • Male
  • Middle Aged
  • Pedigree
  • Young Adult