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Case Reports in Nephrology
Volume 2017 (2017), Article ID 9543079, 4 pages
Case Report

Early Renal Involvement in a Girl with Classic Fabry Disease

1Servicio de Terapia Intensiva del Hospital Dr. Enrique Erill de Escobar, Provincia de Buenos Aires, Argentina
2GINEF Argentina (Grupo de Investigación Nefrológica en la Enfermedad de Fabry), Buenos Aires, Argentina
3Centro de Infusión y Estudio de Enfermedades Lisosomales del Instituto de Nefrología Clínica Pergamino, Provincia de Buenos Aires, Argentina
4Centro de Neurociencias Los Manantiales, Grupo Gamma Rosario, Provincia de Santa Fe, Argentina
5Cátedra de Biofísica y Fisiología, Instituto Universitario Italiano de Rosario, Provincia de Santa Fe, Argentina

Correspondence should be addressed to Fernando Perretta

Received 13 July 2017; Accepted 23 August 2017; Published 1 October 2017

Academic Editor: Hiro Matsukura

Copyright © 2017 Fernando Perretta et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.