A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.
H Mukdsi J, Gutiérrez S, Barrón B, Novoa P, Fernández S, de Diller AB, I Torres A, Formica RN, Orías M. A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation. Journal Of Nephropathology 2012, 1: 194-7. PMID: 24475416, PMCID: PMC3886146, DOI: 10.5812/nephropathol.8123.Peer-Reviewed Case Reports and Technical NotesFabry diseaseRenal variantLong-term followProgressive kidney diseaseYear old manEnzyme replacement therapyΑ-GalA activityRecessive inborn errorPodocyte activationSecond biopsySystemic manifestationsKidney diseaseReplacement therapyHistologic dataDirect DNA sequencingGenetic testingDeficient activityDiseaseElectron microscopic evidenceInborn errorsTherapy treatmentGlycosphingolipid metabolismGene mutationsHemizygote mutationIntracellular inclusions