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01-11-2018 | Original Article

Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Authors: Juan Politei, Valeria Alberton, Oscar Amoreo, Norberto Antongiovanni, Maria Nieves Arán, Marcelo Barán, Gustavo Cabrera, Silvia Di Pietrantonio, Consuelo Durand, Alejandro Fainboim, Joaquin Frabasil, Fernando Gomez Pizarro, Roberto Iotti, Miguel Liern, Fernando Perretta, Diego Ripeau, Fernanda Toniolo, Hernan Trimarchi, Dana Velasques Rivas, Eric Wallace, Andrea Beatriz Schenone

Published in: Pediatric Nephrology | Issue 11/2018

Abstract

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.

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Title: Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
Authors: Juan Politei
Valeria Alberton
Oscar Amoreo
Norberto Antongiovanni
Maria Nieves Arán
Marcelo Barán
Gustavo Cabrera
Silvia Di Pietrantonio
Consuelo Durand
Alejandro Fainboim
Joaquin Frabasil
Fernando Gomez Pizarro
Roberto Iotti
Miguel Liern
Fernando Perretta
Diego Ripeau
Fernanda Toniolo
Hernan Trimarchi
Dana Velasques Rivas
Eric Wallace
Andrea Beatriz Schenone
Publication date: 01-11-2018
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 11/2018
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-018-4006-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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