Renal changes in heterozygous Fabry's disease--a family study

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
H C ChenJ Y Guh

Abstract

Two sisters, one with a long history of proteinuria and the other of hematuria, came for examination. Physical examination and routine laboratory workups did not show any significant abnormalities. The renal ultrastructural changes in case 1 showed marked enlargement and foamy vacuolation of all the glomerular capillary visceral epithelial cells, which was not found in other glomerular cells. The renal changes in case 2 showed similar lesions but with fewer cells involved and also with less severity, but the involved cells showed marked lamellation within the vacuoles. The serum alpha-galactosidase activity was 4.9 and 3.0 nmol/h/mL serum, respectively (normal values, 12.1 +/- 1.6 nmol/h/mL serum, mean +/- SD, n = 11), thus confirming the heterozygous variety of Fabry's disease. Our findings in these two cases reveal that patients with heterozygous Fabry's disease may present with renal symptoms only, which may be either proteinuria or hematuria.

References

May 31, 1958·British Medical Journal·J R COLLEYH E DE WARDENER

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Citations

Jun 3, 2014·BMC Nephrology·Stephen Waldek, Sandro Feriozzi
Nov 4, 2017·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gülşah Kaya AksoySema Akman
Dec 15, 2005·Renal Failure·Branka Jeren Strujić, Tatjana Jeren
Jan 12, 2002·Kidney International·Ravi ThadhaniGregorio T Obrador
Apr 17, 2004·Archives of Pathology & Laboratory Medicine·Thomas Paulraj ThambooNorman Hock-Ling Chan
Jan 8, 2011·La Revue de médecine interne·M-C Gubler

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