title: Unusual renal presentation of Fabry disease in a female patient.
abstract: BACKGROUND
  A 29-year-old white woman with a family history of Fabry disease was referred to a nephrology clinic with hypertension and nephropathy. Her renal function was below normal (serum creatinine level 141 micromol/l; estimated glomerular filtration rate 41 ml/min/1.73 m2) with no proteinuria or albuminuria.
  
  
  METHODS
  Medical history, physical examination, leukocyte alpha-galactosidase A assay, laboratory tests (for antinuclear antibodies, antineutrophil cytoplasmic antibodies, lupus anticoagulant, anticardiolipin antibodies, complement and cryoglobulin), ophthalmological examination, echocardiography, brain magnetic resonance angiography, renal ultrasonography, renal color echo-Doppler scan, renal magnetic resonance angiography, renal angiography and renal biopsy.
  
  
  METHODS
  Diffuse sclero-atrophic renal tissue changes and widespread renal arterio-arteriolosclerotic changes secondary to Fabry disease.
  
  
  METHODS
  Angiotensin-converting-enzyme inhibitors and maintenance treatment with agalsidase-beta, 1 mg/kg body weight, every 2 weeks.
authors.affiliation: Division of Nephrology, Department of Biomedical and Surgical Sciences, University of Verona, Ospedale Maggiore, P. le Stefani 1, Verona 37126, Italy. cataldo.abaterusso@univr.it
authors.forename: Cataldo
authors.initials: C
authors.lastname: Abaterusso
authors.forename: Vincenzo
authors.initials: V
authors.lastname: De Biase
authors.forename: Alessandro
authors.initials: A
authors.lastname: Salviati
authors.forename: Antonia
authors.initials: A
authors.lastname: Fabris
authors.forename: Deborah
authors.initials: D
authors.lastname: Millardi
authors.forename: Paola
authors.initials: P
authors.lastname: Tomei
authors.forename: Patrizia
authors.initials: P
authors.lastname: Bernich
authors.forename: Antonio
authors.initials: A
authors.lastname: Lupo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gambaro
mesh_terms: D000328:Adult; D001706:Biopsy; D004502:Education, Medical, Continuing; D000795:Fabry Disease / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007668:Kidney / Q000098:blood supply / Q000000981:diagnostic imaging / Q000473:pathology*; D018810:Magnetic Resonance Angiography; D014057:Tomography, X-Ray Computed