Unusual renal presentation of Fabry disease in a female patient.
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.
Abaterusso
Cataldo
C
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
De Biase
Vincenzo
V
Salviati
Alessandro
A
Fabris
Antonia
A
Millardi
Deborah
D
Tomei
Paola
P
Bernich
Patrizia
P
Lupo
Antonio
A
Gambaro
Giovanni
G
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