Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Maria Dolores Sanchez-Niño; Alberto Ortiz

doi:10.5812/nephropathol.8110

J Nephropathol. 2012;1(3): 152-154.
doi: 10.5812/nephropathol.8110

PMID: 24475406
PMCID: PMC3886152
Scopus ID: 84874720024

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Commentary

Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Maria Dolores Sanchez-Niño ¹, Alberto Ortiz ²^*

¹ Nefrologia, IdiPAZ, Madrid, Spain.
² Nefrologia, IIS-Fundación Jiménez Díaz, Universidad Autónoma de Madrid and Fundación Renal Iñigo Alvarez de Toledo, Madrid, Spain.

*Corresponding Author: *Corresponding author: Prof.Alberto Ortiz,Unidad de Diálisis ,Fundación Jiménez Díaz.Avd. Reyes Católicos 2, 28040 Madrid, España. Fax: +34 915 442636., Email: aortiz@fjd.es

Keywords: Fabry disease, Kidney disease, Mutation, Fabry nephropathy

Implication for health policy/practice/research/medical education:

Fabry disease is caused by a deficient activity of alpha-galactosidase A (α-GalA) due to mutations in the X chromosome GLA gene. The enzymatic defect causes intracellular accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (GL-3), as well as increased circulating levels of globotriaosylsphingosine (Lyso-GL-3).

Please cite this paper as: Sánchez-Niño MD, Ortiz A. Is it or is it not a pathogenic mutation? Is it or is it not the podocyte? J Nephropathology. 2012; 1(3): 152-154. DOI: 10.5812/nephropathol.8110

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