title: Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.
abstract: BACKGROUND
  Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. The aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in order to draw clinical lessons for the transplant physician.
  
  
  METHODS
  We retrospectively assessed all patients who had received a diagnosis of a rare genetic disorder after KTx.
  
  
  RESULTS
  In our center, more than 30% (278/911) of kidney transplant (KTx) recipients were diagnosed with a causal nephropathy: Prevalence of rare genetic disorders in this group was 4.32% (12/278), including 2,8-dihydroxyadeninuria (2,8-DHA) disease (n = 2), HNF-1B-associated nephropathy (n = 2), UMOD-related nephropathy (n = 5), Fabry disease (n = 1), INF2 focal segmental glomerulosclerosis (n = 1), and Senior-Løken syndrome (n = 1). 2,8-DHA nephropathy relapsed in both patients causing an acute renal failure and jeopardizing the graft.
  
  
  CONCLUSIONS
  Kidney transplant recipients without a diagnosis of causal nephropathy appear to be a selected population in which rare genetic diseases might be more common than expected. As even a belated diagnosis after KTx can have a significant impact on graft and patient survival and on other family members, this possibility should be evaluated in KTx recipients without a known causal nephropathy.
authors: Department of Translational Medicine and IRCAD, Nephrology and Kidney Transplantation, University of Eastern Piedmont, Novara, Italy.
authors: Marco
authors: M
authors: Quaglia
authors: Claudio
authors: C
authors: Musetti
authors: Gian Marco
authors: GM
authors: Ghiggeri
authors: Giovanni Battista
authors: GB
authors: Fogazzi
authors: Fabio
authors: F
authors: Settanni
authors: Renzo Luciano
authors: RL
authors: Boldorini
authors: Elisa
authors: E
authors: Lazzarich
authors: Andrea
authors: A
authors: Airoldi
authors: Cristina
authors: C
authors: Izzo
authors: Mara
authors: M
authors: Giordano
authors: Piero
authors: P
authors: Stratta
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005500:Follow-Up Studies; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005919:Glomerular Filtration Rate; D006084:Graft Rejection; D006085:Graft Survival; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D007677:Kidney Function Tests; D016030:Kidney Transplantation; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011379:Prognosis; D035583:Rare Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D012189:Retrospective Studies; D012307:Risk Factors; D066027:Transplant Recipients; D055815:Young Adult
keywords: Anderson-Fabry disease; HNF-1B nephropathy; adenine phosphoribosyltransferase deficiency; inverted formin 2 focal segmental glomerulosclerosis; kidney transplant; nephronophthisis; undiagnosed nephropathy; uromodulin related nephropathy