La Enfermedad de Fabry en pacientes en hemodiálisis: valoración del tratamiento enzimático sustitutivo

Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation

“…The result would be glomerular sclerosis on one hand, and tubulo-interstitial atrophy and fibrosis on the other, the latter favored by the "toxic" action exerted on the renal interstitium by tubular reabsorption of proteins. [13] As previously mentioned, patient 1 evolved to end stage renal disease over a period of 4 years, receiving chronic hemodialysis 3 times per week, using an autologous left brachial arteriovenous fistula. Due to voluntary suspension of antihypertensive medication, he developed ischemic stroke of the left middle cerebral artery, with subsequent motor recovery, maintaining mild dysarthria of late recovery.…”

Enfermedad de Fabry en la sala de hemodiálisis: a propósito de un caso

“…La primera mediante la administración de agalsidasa, en su isoforma alfa o beta, la segunda (migalastat) se aprobó recientemente. Asímismo se precisa tratamiento de soporte sintomático según cada patología [3][4][5][6] .…”