Respuesta correcta

Enfermedad de Fabry

Resolución al caso:

En la enfermedad de Fabry clásica, los primeros síntomas, incluyendo dolor neuropático y crisis episódicas de dolor severo, típicamente surgen durante la infancia. Síntomas como hipohidrosis, anomalías cutáneas (angioqueratomas), trastornos gastrointestinales (distensión abdominal, diarrea, dolor abdominal) y córnea verticillata son manifestaciones tempranas adicionales1,2. La lesión renal oculta puede ocurrir a una edad temprana, incluyendo albuminuria y glomeruloesclerosis3-5. Complicaciones orgánicas sintomáticas típicamente surgen en pacientes adultos jóvenes, incluyendo enfermedad renal crónica (ERC), insuficiencia renal e hipertrofia ventricular izquierda (HVI) asociada con fibrosis miocárdica y arritmias, pérdida auditiva, accidentes isquémicos transitorios (AIT)6,7, 8-13.

SABER MÁS

MAT-ES-2301003 V1 Mayo 2023

    1. The Online Metabolic and Molecular Bases of Inherited disease (OMMBID), Available at: https://ommbid.mhmedical.com/content.aspx?bookid=971& sectionid=62644837&jumpsectionID=62644922#1102896682, Accessed date: 19 October 2017.
    2. P. Germain, Fabry disease, Orphanet. J. Rare Dis. 5 (2010) 30.
    3. Najafian, E. Svarstad, L. Bostad, et al., Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease, Kidney Int. 79 (2011) 663–670.
    4. Tøndel, L. Bostad, K.K. Larsen, et al., Agalsidase benefits renal histology in young patients with Fabry disease, J. Am. Soc. Nephrol. 24 (2013) 137–148.
    5. Skrunes, C. Tøndel, S. Leh, et al., Long-term dose-dependent agalsidase effects on kidney histology in Fabry disease, Clin. J. Am. Soc. Nephrol. 12 (2017) 1470–1479.
    6. R. Wilcox, J.P. Oliveira, R.J. Hopkin, et al., Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry, Mol. Genet. Metab. 93 (2008) 112–128.
    7. P. Germain, P. Avan, A. Chassaing, P. Bonfils, Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients, BMC Med. Genet. 3 (2002) 10.
    8. Namdar, Electrocardiographic changes and arrhythmia in Fabry disease, Front. Cardiovasc. Med. 3 (2016) 7.
    9. Ortiz, J.P. Oliveira, S. Waldek, D.G. Warnock, B. Cianciaruso, C. Wanner, Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy, Nephrol. Dial. Transplant. 23 (2008) 1600–1607.
    10. R. Patel, F. Cecchi, M. Cizmarik, et al., Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry, J. Am. Coll. Cardiol. 57 (2011) 1093–1099.
    11. Sims, J. Politei, M. Banikazemi, P. Lee, Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry, Stroke 40 (2009) 788–794.
    12. Waldek, M.R. Patel, M. Banikazemi, R. Lemay, P. Lee, Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry, Genet. Med. 11 (2009) 790–796.
    13. C. Wilson, R.J. Hopkin, P.C. Madueme, et al., Arrhythmia and clinical cardiac findings in children with Anderson-Fabry disease, Am. J. Cardiol. 120 (2017) 251–255.

Temas relacionados:

#Enfermedad de Fabry