title: Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.
abstract: BACKGROUND
  We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history.
  
  
  METHODS
  At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis. At the age of 35, he was referred to our hospital and started dialysis: the unusual finding of left ventricular hypertrophy with a normal ejection fraction and of myocardial fibrosis at the cardiac magnetic resonance suggested a diagnosis of Fabry disease, although there was no apparent family history-so extensive tests were subsequently undertaken. The patient had low plasma levels of α-galactosidase A and the genetic analysis showed a single nucleotide point mutation in hemizygosis at nucleotide c.901 C>T in exon 6 of the GLA gene, confirming the diagnosis of Fabry disease. We extended the genetic analysis to all family members of the patient (mother, sister and brothers) and none of them had any alteration in the GLA gene, suggesting a de novo mutation in the patient.
  
  
  CONCLUSIONS
  In a family, it is rare to find only one Fabry disease affected subject with a de novo mutation. These findings emphasize the importance of early diagnosis, genetic counseling and studying the genealogical tree of suspicious patients, even in absence of a typical family history.
authors.affiliation: Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy. antopisa@unina.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Pisani
authors.affiliation: CEINGE-Advanced Biotechnology S.c.a r.l., Via Gaetano Salvatore 486, 80145, Naples, Italy. aurora.daniele@unina2.it.|IRCCS- SDN Fondation, Via Emanuele Gianturco 113, 80142, Naples, Italy. aurora.daniele@unina2.it.
authors.forename: Aurora
authors.initials: A
authors.lastname: Daniele
authors.affiliation: CEINGE-Advanced Biotechnology S.c.a r.l., Via Gaetano Salvatore 486, 80145, Naples, Italy. didomenico@ceinge.unina.it.
authors.forename: Carmela
authors.initials: C
authors.lastname: Di Domenico
authors.affiliation: CEINGE-Advanced Biotechnology S.c.a r.l., Via Gaetano Salvatore 486, 80145, Naples, Italy. nigro@ceinge.unina.it.
authors.forename: Ersilia
authors.initials: E
authors.lastname: Nigro
authors.affiliation: CEINGE-Advanced Biotechnology S.c.a r.l., Via Gaetano Salvatore 486, 80145, Naples, Italy. salvatore@unina.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
authors.affiliation: Chair of Nephrology, Department of Public Health, University Federico II of Naples, Naples, Italy. elyriccio@libero.it.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Riccio
mesh_terms: D002648:Child; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications*; D008297:Male; D009154:Mutation