Nephropathy in a case of Fabry's disease
Reyes Marín, F.A.; Gómez Navarro, B.; Tamayo y Orozco, J.; Larriva Sahd, J.; Hernández Pando, R.; Velázquez Forero, F.; Peña, J.C.
Revista de Investigacion Clinica; Organo del Hospital de Enfermedades de la Nutricion 43(4): 373-376
1991
ISSN/ISBN: 0034-8376 PMID: 1665922 Document Number: 375061
The present communication describes a 22 year-old male with clinical, biochemical and histopathological signs of Fabry's disease (FD). This is the second case of FD reported in Mexico. The main clinical manifestations of this patient were during puberty: intermittent weakness, acroparesthesias and hypohidrosis. At age 21 he developed heavy proteinuria (7-12 g/day) systemic hypertension and moderate renal failure. The kidney biopsy showed the typical alterations described in FD. On light microscopy, the renal pathology showed numerous vacuolated epithelial cells in the glomerular wall, giving them a "foamy" appearance; vacuolization was due to the presence of lipid material within these cells and in the interstitium. In electron microscopy, dense, irregularly shaped osmiophilic, laminated bodies with myelinlike configuration, were seen within the glomerular epithelial cells and in the urinary spaces. The low alfa-galactosidase activity in serum (0.18 nmol/h/mL normal values: 12.8) confirmed the diagnosis. Our findings in this case indicate that patients with FD may start with renal symptoms alone, which were full blown nephrotic syndrome, hypertension and moderate renal failure.