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- Title
Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
- Authors
Politei, Juan; Alberton, Valeria; Amoreo, Oscar; Antongiovanni, Norberto; Arán, Maria Nieves; Barán, Marcelo; Cabrera, Gustavo; Di Pietrantonio, Silvia; Durand, Consuelo; Fainboim, Alejandro; Frabasil, Joaquin; Pizarro, Fernando Gomez; Iotti, Roberto; Liern, Miguel; Perretta, Fernando; Ripeau, Diego; Toniolo, Fernanda; Trimarchi, Hernan; Rivas, Dana Velasques; Wallace, Eric
- 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.
- Subjects
KIDNEY glomerulus; KIDNEYS; BIOMARKERS; BIOPSY; CELL physiology; ELECTRON microscopy; ENZYMES; LYSOSOMAL storage diseases; URINALYSIS; PHENOTYPES; ANGIOKERATOMA corporis diffusum; SYMPTOMS; PHYSIOLOGY; DIAGNOSIS; ANATOMY
- Publication
Pediatric Nephrology, 2018, Vol 33, Issue 11, p2095
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-018-4006-3