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. INVESTIGATIONS: 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. DIAGNOSIS: Diffuse sclero-atrophic renal tissue changes and widespread renal arterio-arteriolosclerotic changes secondary to Fabry disease. TREATMENT: Angiotensin-converting-enzyme inhibitors and maintenance treatment with agalsidase-beta, 1 mg/kg body weight, every 2 weeks.
Abaterusso, C., De Biase, V., Salviati, A., Fabris, A., Millardi, D., Tomei, P., Bernich, P., Lupo, A., Gambaro, G., Unusual renal presentation of Fabry disease in a female patient., <<NATURE REVIEWS. NEPHROLOGY>>, 2009; 2009 (Giugno): 349-354. [doi:10.1038/nrneph.2009.71] [http://hdl.handle.net/10807/10286]
Unusual renal presentation of Fabry disease in a female patient.
Gambaro, Giovanni
2009
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. INVESTIGATIONS: 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. DIAGNOSIS: Diffuse sclero-atrophic renal tissue changes and widespread renal arterio-arteriolosclerotic changes secondary to Fabry disease. TREATMENT: Angiotensin-converting-enzyme inhibitors and maintenance treatment with agalsidase-beta, 1 mg/kg body weight, every 2 weeks.
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