Sindrome de Marfan
Keywords:
sindrome de Marfan, enfermedades hereditarias, alteraciones cromosomaticas, fibrilina 1Abstract
El síndrome de Marfan es una enfermedad que hace parte del grupo de las llamadas colagenopatías no autoinmunes, etiológicamente esta dada por la mutacion en el gen que codifica la fibrilina 1 (FBN1) y que es la que se encarga junto con otras proteínas como la elastina de formar los microfilamentos de sostén de la matriz celular. Este defecto genera multiples manifestaciones clínicas por defectos en diferentes sistemas (esquelético, cardiovascular, gastrointestinal, ocular). El caso reportado es de un paciente que llego a la edad adulta sin un diagnostico de la enfermedad, que nosotros incidentalmente sospechamos en el contexto de una neumonía adquirida en la comunidad.
Downloads
References
John R.Giudicessi, BA.Michael J.Ackerman., 2013. (2008). NIH Public Access. Bone, 23(1), 1–7. https://doi.org/10.1038/jid.2014.371
T. Vanem, O.R. Geiran, K. Krohg-Sorensen, C. Roe, B. Paus, S. Rand-Hendriksen Survival, causes of death, and cardiovascular events in patients with Marfan syndrome Mol. Genet. Genomic Med., 6 (6) (2018), pp. 1114-1123
Muñoz Sandoval, J., Saldarriaga-Gil, W., & De Lourido, C. I. (2014). Síndrome de marfan, mutaciones nuevas y modificadoras del gen FBN1. Iatreia, 27(2), 206–215.
Loja, D., Vilca, M., Aviles, R., Necochea, Y., Manrique, M., Postigo, R. Redalyc.Síndrome de Marfan. A Propósito de un Caso. (2001). Anales de la Facultad de Medicina, Universidad Nacional Mayor de San Marcos, ISSN 1025-5583, VOL 62, Numero 1-2001, paginas 56-62
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85.
Loeys, B., Chen, J., Neptune, E. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37, 275–281 (2005) doi:10.1038/ng1511.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med. 2006;355(8):788–98.
Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease. Circulation. 2010;121(13):266–369.
Wright, MJ, Dietz, HC III. Connective tissue diseases. In: Oski's Principles and Practice of Pediatrics, McMillan, J, Oski, F (Eds), Lippincott Raven, Philadelphia 1999.
Chiu HH, Wu MH, Wang JK, Lu CW, Chiu SN, Chen CA, et al. Losartan added to β-blockade therapy for aortic root dilation in marfan syndrome: A randomized, open-label pilot study. Mayo Clin Proc dx.doi.org/10.1016/j.mayocp.2012.11.005
Doyle JJ, Doyle AJ, Wilson NK, Habashi JP, Bedja D, Whitworth RE, et al. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. Elife. 2015;4(October 2015):1–18.
Mellor A. Replacement of the aortic root in patients with Marfan’s syndrome. Crit Care. 1999;1(1):1307–13.
Downloads
Published
How to Cite
Issue
Section
License
Warning of rights of author
The authors that publish in this journal agree with the following terms:
The authors conserve the rights of author and concede to the journal the right of the first publication, fulfilling with the license Creative Commons Attribution License that allows to others share the work with recognition of the authorship of their articles, and the initial publication in this journal.
The authors can establish separately additional agreements for the no exclusive distribution of the version of the work published in the journal (for example, situate it in an institutional repository, in a personal blog or publish it partial or totally in a book), with a recognition of their initial publication in this journal.
To be able to send the manuscript or part of him passed three months of published, for his evaluation to other publishers, identifying it or not with the same title; whenever allusion is made to our journale and know it the new publisher.
The publishing committee of the Cuban Journal of Rheumatology authorizes to other publishers, to reproduce the articles published in our magazine, whenever it indicate the origin of the same.
The authors should send a document in Office Word application format through the electronic address of the magazine with a similar format to that we include next:
---------------------------------------------------------------------------------------------------------------------
Statement of authorship and cede of articles for the publication of the scientific work in the Cuban Journal of Rheumatology
Date:
Those who subscribe certify that are the authors of the work:
Of this form communicate the originality of our article clearing that the concepts and knowledges of other authors that have included in the text of the article, have been quoted properly in the bibliography.
We do proof besides that the article in question is original and has not been published, total neither partially, in another journal.
To be approved for his publication in the Cuban Journal of Rheumatology, do secession of the rights of publication to the same one through the method that realizes it usually.
In front of any catchword that exist by the article that send to evaluate, relieve of of the responsibility to the Cuban Journal of Rheumatology holding us responsible with all the difficulties that can berelated by any situation.
We include to continuation the name and the signature of all authors and collaborators of this article.
Name: Signature:
