Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?
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...
| Publicado en: | Pediatric Nephrology Vol. 33; no. 11; pp. 2095 - 2102 |
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| Autores principales: | , , , , , , , , , , , , , , , , , , , |
| Formato: | diagnostic images research tables/charts Journal Article |
| Publicado: |
Springer Nature
Nov2018
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=131838097&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 131838097 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: Nov2018 vid: 33 iid: 11 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 131838097 131838097 131838097 10.1007/s00467-018-4006-3 131838097 ppf: 2095 ppct: 7 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible? aug: au: 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 affil: Dr Chamoles Neurochemistry Laboratory, Uriarte 2383, 1426, Buenos Aires, PC, Argentina sug: subj: Fabry Disease Diagnosis Biopsy Cell Physiology Biological Markers Human Kidney Anatomy and Histology Lysosomal Storage Diseases Enzymes Phenotype Fabry Disease Symptoms Microscopy, Electron Male Female Urinalysis Kidney Glomerulus Physiology Male Female ab: 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. pubtype: Academic Journal doctype: diagnostic images research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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