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

Autor: Politei J; Dr Chamoles Neurochemistry Laboratory, Uriarte 2383, 1426, Buenos Aires, PC, Argentina. jpolitei@hotmail.com., Alberton V; El Cruce Hospital, Buenos Aires, Argentina., Amoreo O; El Cruce Hospital, Buenos Aires, Argentina., Antongiovanni N; Nephrology Investigation Group, Buenos Aires, Argentina., Arán MN; El Cruce Hospital, Buenos Aires, Argentina., Barán M; El Cruce Hospital, Buenos Aires, Argentina., Cabrera G; Del Viso Medical Center, Buenos Aires, Argentina., Di Pietrantonio S; El Cruce Hospital, Buenos Aires, Argentina., Durand C; Dr Chamoles Neurochemistry Laboratory, Uriarte 2383, 1426, Buenos Aires, PC, Argentina., Fainboim A; Ricardo Gutierrez Children Hospital, Buenos Aires, Argentina., Frabasil J; Dr Chamoles Neurochemistry Laboratory, Uriarte 2383, 1426, Buenos Aires, PC, Argentina., Pizarro FG; San Justo Children Hospital, Buenos Aires, Argentina., Iotti R; CEMIC University Institute, Buenos Aires, Argentina., Liern M; Ricardo Gutierrez Children Hospital, Buenos Aires, Argentina., Perretta F; Nephrology Investigation Group, Buenos Aires, Argentina., Ripeau D; Profesor Alejandro Posadas Hospital, Buenos Aires, Argentina., Toniolo F; Pathology Diagnosis Center, Buenos Aires, Argentina., Trimarchi H; British Hospital, Buenos Aires, Argentina., Rivas DV; Dr Chamoles Neurochemistry Laboratory, Uriarte 2383, 1426, Buenos Aires, PC, Argentina., Wallace E; Department of Medicine, University of Alabama, Birmingham, AL, USA., Schenone AB; Dr Chamoles Neurochemistry Laboratory, Uriarte 2383, 1426, Buenos Aires, PC, Argentina.
Jazyk: angličtina
Zdroj: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2018 Nov; Vol. 33 (11), pp. 2095-2101. Date of Electronic Publication: 2018 Jul 09.
DOI: 10.1007/s00467-018-4006-3
Abstrakt: 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.
Databáze: MEDLINE
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