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Unusual renal presentation of Fabry disease in a female patient

Nature Reviews Nephrology volume 5, pages 349–354 (2009)Cite this article

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 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.

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Figure 1: Abdominal CT scan obtained 5 years before presentation at the nephrology clinic; the right kidney seems to be symmetric with the left and both kidneys are of normal size.
Figure 2: Renal magnetic resonance angiography scan showing that the right kidney is smaller than the left with a uniformly thinned renal artery.
Figure 3: Angiography of the right kidney showing no abnormality of the renal artery and its main branches; cortical vascularization is diffusely and homogeneously rarefied.
Figure 4: Light microscopy examination of the biopsy tissue.
Figure 5: Low-magnification electron microscopy shows concentric lamellar inclusions typical of Fabry disease within lysosomes in the podocyte (magnification ×13,000).
Figure 6: Low-magnification electron microscopy shows the arteriolar wall with lamellar inclusion in a smooth muscle cell (magnification ×14,500).

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Acknowledgements

Désirée Lie, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the Medscape-accredited continuing medical education activity associated with this article.

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Authors and Affiliations

  1. Maggiore Hospital, Verona, Italy

    Cataldo Abaterusso, Vincenzo De Biase, Antonia Fabris & Patrizia Bernich

  2. University of Verona, Verona, Italy

    Alessandro Salviati, Deborah Millardi, Paola Tomei & Antonio Lupo

  3. Colombus-Gemelli University Hospital, Renal Program, Catholic University, Rome, Italy

    Giovanni Gambaro

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  1. Cataldo Abaterusso
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Correspondence to Cataldo Abaterusso.

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Abaterusso, C., De Biase, V., Salviati, A. et al. Unusual renal presentation of Fabry disease in a female patient. Nat Rev Nephrol 5, 349–354 (2009). https://doi.org/10.1038/nrneph.2009.71

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