Unusual renal presentation of Fabry disease in a female patient.

Giovanni Gambaro, Cataldo Abaterusso, Vincenzo De Biase, Alessandro Salviati, Antonia Fabris, Deborah Millardi, Paola Tomei, Patrizia Bernich, Antonio Lupo

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

3 Citazioni (Scopus)


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.
Titolo tradotto del contributo[Autom. eng. transl.] Unusual renal presentation of Fabry disease in a female patient.
Lingua originaleItalian
pagine (da-a)349-354
Numero di pagine6
Stato di pubblicazionePubblicato - 2009


  • CKD
  • Fabry disease
  • kidney


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