Related Experiment Video
Updated: Feb 8, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation
Juan Politei1, Valeria Alberton2, Oscar Amoreo2
1Dr Chamoles Neurochemistry Laboratory, Uriarte 2383, 1426, Buenos Aires, PC, Argentina. jpolitei@hotmail.com.
Background:
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease.
Methods:
A retrospective analysis was performed using charts from 14 children with confirmed diagnosis. Clinical parameters were evaluated. Globotriaosylsphingosine -lysoGb3- detection in plasma, podocyturia, and kidney biopsy were carried out in all cases.
Results:
All patients except one demonstrated at least one symptom of Fabry disease. LysoGb3 levels were above the normal range in all patients. Podocyturia was documented in all patients. Kidney biopsy revealed glomerular, interstitial, vascular, and tubular changes on light microscopy in nearly all patients. Electron microscopy showed podocyte inclusions in all patients.
Conclusions:
No difference in symptomatology was discernible between boys and girls. Podocyturia was detectable in children serving as a possible early marker of kidney injury. LysoGb3 was elevated in all cases, emphasizing the importance for diagnosis especially in female patients with normal αGal A activity. A possible association between lysoGb3 and symptom severity and histological involvement in kidney biopsy should be assessed in prospective studies with enough statistical power to determine if lysoGb3 can be used to predict nephropathy in children with Fabry disease.
Related Concept Videos
Chronic Kidney Disease II: Clinical Manifestations
Chronic Kidney Disease I: Introduction
Acute Kidney Injury III: Clinical Manifestations
Correlations
Correlation and Causation
Correlation versus Causation
If the dependent variable increases or decreases when the independent variable increases, there is a positive or negative...
Chronic Kidney Disease III: Interprofessional Care

