| Literature DB >> 19399018 |
Cataldo Abaterusso1, Vincenzo De Biase, Alessandro Salviati, Antonia Fabris, Deborah Millardi, Paola Tomei, Patrizia Bernich, Antonio Lupo, Giovanni Gambaro.
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.Entities:
Mesh：
Year: 2009 PMID： 19399018 DOI： 10.1038/nrneph.2009.71
Source DB: PubMed Journal: Nat Rev Nephrol ISSN： 1759-5061 Impact factor: 28.314