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Revista de Nefrología, Diálisis y Trasplante

ISSN 0326-3428 (Print)
Órgano de difusión científica de la Asociación Nefrológica de Buenos Aires
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2022, Number 4

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Rev Nefrol Dial Traspl 2022; 42 (4)

SARS Cov-2 infection in a pregnant patient with Fabry’s disease type I

Villalobos AJJ, Schwaitzer C, Tupaz B
Full text How to cite this article

Language: Spanish
References: 9
Page: 325-329
PDF size: 176.61 Kb.


Key words:

Fabry disease, Pregnancy, Covid 19.

ABSTRACT

Aqui va el texto que falta: ABSTRACT Fabry’s disease (EF) [OMIM 301500] is a lysosomal deposit disease, linked to an X chromosome, caused by the deficiency of the α-galactosidase enzyme (α gal), which generates the progressive accumulation of globotriaosylceramide (GB3)(2) mainly in vascular endothelium, producing endotheliopathy with important systemic manifestations(3). The factors for critical disease by SARSCov-2, identified in the general population, overlap with symptoms seen in adult patients with EF. Objective: Report the case of a patient with EF type I who presented infection by the SARSCov-2 virus during the third pregnancy quarter. Results: Pregnancy evolved at term without complications; the resolution was segmental cesarean section due to dilatation dystocia, obtaining a single male product in good general conditions, without exacerbation of the symptoms of the EF; The bimonthly trend scheme was maintained with home infusion Agalsidase B. Conclusion: Pregnancy can evolve without complications in patients with EF; that enzymatic replacement therapy is safe during it, and despite the vulnerability of EF patients, SARS COV-2 infection can evolve in a benign way.


REFERENCES

  1. Politei J. Fabry disease during the COVID-19 pandemia.Why and how treatment should be continued. MolecularGenetics and Metabolism. 2020;130(4): 227-229.

  2. Concolinoa D, Amicob L, Cappellinic M.D, CassineriocE, Contie M, Donatif M.A, et al. Home infusionprogram with enzyme replacement therapy for Fabrydisease: The experience of a large Italian collaborativegroup. Mol Genet Metab Rep 2017;12: 85–91.

  3. Villalobos J, Febres C, Finol H J, Colina V, Torres S.Efecto de Agalsidasa B sobre el músculo esqueléticoen pacientes con enfermedad de Fabry Clásica. AVFT2018; 37(4)

  4. Martins A M, Cabrera Gustavo, Molt F, Suárez-ObandoF, Valdés R, Varas C, et al. The clinical profiles offemale patients with Fabry disease in LatinAmerica: AFabry Registry analysis of natural history data from169patients based on enzyme replacement therapy status.JIMD Reports. 2019; 49:107–117.

  5. Villalobos J, García CC, Politei J, Frabasil J, Colina V.Genotype-Phenotype Variations of Renal Complicationsin Fabry Disease Q279X Mutation. J. inborn errorsmetab. screen. 2020;8: e20200007 DOI: https://doi.org/10.1590/2326–4594–JIEMS–2020–0007.

  6. Laney D, Germain D, Oliveira J, Burlina A, CabreraG, Hong G, et al. Fabry disease and COVID-19:international expert recommendations for managementbased on real-world experience. Clin Kidney J. 2020;13(6): 913–925.

  7. Wastnedge E. Pregnancy and COVID-19. PhysiolRev.2021; 101(1):303–318.

  8. Madsen Ch, Christensen E, Nieken R, Mogensen H,Rasmussen A, Feldt U. Enzyme replacement therapyduring pregnancy in Fabry patients. JIMD Reports. DOI10.1007/8904.2018-129.

  9. Fernández P, Fernández S, Gonzalez J, FernándezT, Fernández C, Fernández S. Enzyme replacementTherapy in Pregnant Women with Fabry Disease: A caseSeries. JIMD Reports 2019; 45:77-81.




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Rev Nefrol Dial Traspl. 2022;42