Elsevier

Human Pathology

Volume 34, Issue 3, March 2003, Pages 285-289
Human Pathology

Case Studies
Chloroquine-induced phospholipidosis of the kidney mimicking fabry's disease: Case report and review of the literature,☆☆

https://doi.org/10.1053/hupa.2003.36Get rights and content

Abstract

A 46-year-old female patient with Sjögren's syndrome, hypertension, and stable chronic renal insufficiency (creatinine [CR], 1.9 to 2.1 mg/dL) had a progressive worsening of renal function (CR, 5.0 mg/dL) after 11 months of chloroquine therapy (155 mg/day; cumulative dose of approximately 51 g). Light microscopy revealed nonspecific angionephrosclerosis. Electron microscopy showed accumulations of lamellated myelinoid material and occasionally also of curvilinear bodies, especially in the glomerular podocytes and to a lesser extent in vascular myothelial and endothelial cells. In the tubular system, mainly protein droplets were stored. Activity of alpha-galactosidase A was normal in isolated leukocytes (56 nmol/mg; range, 33.2 to 109 nmol/mg), ruling out Fabry's disease. Clinical, morphological, and biochemical findings were consistent with chloroquine-associated deterioration of renal function that improved considerably after discontinuation of chloroquine treatment. Adverse effects of chloroquine may aggravate preexisting renal disease. Electron microscopy is a worthwhile tool for establishing the correct diagnosis. Hum Pathol 34:285-289. Copyright 2003, Elsevier Inc. All rights reserved.

Section snippets

Case report

A 46-year-old female patient had suffered from Sjögren's syndrome with keratoconjunctivitis, xerostomia, and arthralgias for 13 years before presenting to the clinic. The diagnosis of Sjögren's syndrome was confirmed by positive immunoserologic findings for antinuclear antibodies, rheumatoid factor, and SS-A and SS-B antibodies. The patient had a 10-year history of poorly controlled arterial hypertension (160/100 mm Hg). Renal function was impaired (serum creatinine [CR] 1.9 to 2.1 mg/dL; blood

Light microscopy

Light microscopy of the renal biopsy (1.2 cm) showed 7 glomeruli, 3 of which were completely obliterated. In the remaining glomeruli a slight and focal increase in mesangial cellularity was seen (Fig 1).

. Light microscopy of the kidney biopsy showing vascular parenchymal atrophy with accumulation of colloid material in the atrophic tubuli and a slight increase of mesangial cellularity in the glomerulum (Original magnification, ×250 HE.).

There was no necrosis of glomerular tufts and no

Discussion

The ultrastructural investigation of the patient's kidney revealed an accumulation of myeline-like bodies consisting of concentric lamellae of dark and clear layers, similar to what is seen in Fabry's disease. The phospholipid material was found mainly in podocytes and to a lesser degree in the glomerular and vascular endothelium, as well as in vascular smooth muscle cells. In Fabry's disease, including oligosymptomatic manifestations restricted to the kidneys, a similar renal storage pattern

Acknowledgements

The authors thank Brigitte Schult and Maria Wittmeier for carefully preparing the manuscript and Sabine Schäfer for valuable technical assistance. This paper is dedicated to G. H. Thoenes on the occasion of his 65th birthday.

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    Address correspondence and reprint requests to J. Mũller-Hõcker, MD, PhD, Pathologisches Institut der Ludwig-Maximilians Universitãt Mũnchen, Thalkirchner Straβe 36, D - 80337 Munich, Germany.

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