Unusual renal presentation of Fabry disease in a female patient
| Autor: | Antonio Lupo, Cataldo Abaterusso, Paola Tomei, Deborah Millardi, Vincenzo De Biase, Alessandro Salviati, Patrizia Bernich, Giovanni Gambaro, Antonia Fabris |
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| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
Adult
Nephrology medicine.medical_specialty Pathology Biopsy Urology Renal function urologic and male genital diseases Kidney Nefropathy Nephropathy Internal medicine CKD medicine Settore MED/14 - NEFROLOGIA Humans Proteinuria medicine.diagnostic_test business.industry Fabry Disease medicine.disease Fabry disease Albuminuria Education Medical Continuing Female Renal biopsy medicine.symptom Tomography X-Ray Computed business Magnetic Resonance Angiography Kidney disease |
| Popis: | Fabry disease, a rare lysosomal storage disorder, predominantly affects males due to its X-linked inheritance pattern. Here, Abaterusso and colleagues describe a heterozygous female who developed severe Fabry disease-related renal disease with neither proteinuria nor microalbuminuria. This case highlights the importance of considering heterozygous females not merely as 'carriers' of Fabry disease, and emphasizes that the absence of microalbuminuria and proteinuria does not rule out chronic kidney disease in Fabry disease. 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 µmol/l; estimated glomerular filtration rate 41 ml/min/1.73 m2) with no proteinuria or albuminuria. Investigations. Medical history, physical examination, leukocyte α-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-β, 1 mg/kg body weight, every 2 weeks. |
| Databáze: | OpenAIRE |
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