title: Anti-glomerular basement membrane glomerulonephritis and thrombotic microangiopathy in first degree relatives: a case report.
abstract: BACKGROUND
  Anti-glomerular basement membrane glomerulonephritis and thrombotic microangiopathy are rare diseases with no known coherence.
  
  
  METHODS
  A daughter and her biological mother were diagnosed with pregnancy-induced thrombotic microangiopathy and anti-glomerular basement membrane glomerulonephritis, respectively. Both developed end-stage renal disease. Exploration of a common aetiology included analyses of HLA genotypes, functional and genetic aspects of the complement system, ADAMTS13 activity and screening for autoantibodies.The daughter was heterozygous carrier of the complement factor I G261D mutation, previously described in patients with membranoproliferative glomerulonephritis and atypical haemolytic uremic syndrome. The mother was non-carrier of this mutation. They shared the disease associated complement factor H silent polymorphism Q672Q (79602A>G).
  
  
  CONCLUSIONS
  An unequivocal functional or molecular association between these two family cases was not found suggesting that the patients probably share another, so far undiagnosed and unknown, predisposing factor. It seems highly unlikely that two infrequent immunologic diseases would occur by unrelated pathophysiological mechanisms within first degree relatives.
authors: Department of Nephrology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, DK-2100, Copenhagen Ø, Denmark. thomas.idorn@rh.regionh.dk
authors: Thomas
authors: T
authors: Idorn
authors: Lone
authors: L
authors: Schejbel
authors: Casper
authors: C
authors: Rydahl
authors: James Goya
authors: JG
authors: Heaf
authors: Karen Riis
authors: KR
authors: Jølvig
authors: Marie
authors: M
authors: Bergstrøm
authors: Peter
authors: P
authors: Garred
authors: Anne-Lise
authors: AL
authors: Kamper
mesh_terms: D000368:Aged; D019867:Anti-Glomerular Basement Membrane Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D011247:Pregnancy; D057049:Thrombotic Microangiopathies / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult