medigraphic.com
ISSN 1684-1824 (Electronic)

2017, Number 1

<< Back Next >>

Rev Méd Electrón 2017; 39 (1)

Type I hereditary hemocrhomatosis. Case presentation

Corrales AS, Morales DM, Estévez LM, Díaz BAL, Álvarez VNP, Celestrín TH

Language: Spanish
References: 15
Page: 91-100
PDF size: 502.66 Kb.


ABSTRACT

Hereditary hemocrhomatosis is a genetic disease of difficult diagnosis in its early stages, caused by alterations in the iron metabolism; it leads to iron storage in several tissues and consequently to a great morbidity in affected patients. In this work, we presented the first case diagnosed by gastroenterologists in the Hospital Faustino Pérez, of Matanzas. The patient began with symptoms related with the endocrine sphere like impotence, and lost of libido and ejaculation. After finishing the correspondent studies, we arrived to the conclusion of post-pubertal hypogonadotropic hypogonadism: the patient presented hepatic enzymes elevation. He was referred to Hepatology consultation where the study was finished, confirming the diagnosis of Type I hereditary hemocrhomatosis through biopsy and genetic studies.


REFERENCES

  1. 1- Castañeda Guillot C, Clark Feoktistova Y, Ruenes Domech C, Robaina Jiménez Z. Trastornos metabólicos y hereditarios del hígado. En: Paniagua Estévez ME, Piñol Jiménez FN. Gastroenterología y Hepatología clínica. Tomo 7 [Internet]. La Habana: Ecimed; 2015. [citado 11 Ene 2016]. p. 358-71. Disponible en: http://www.bvs.sld.cu/libros/gastroenterologia_hepatologia_tomo6/cap_158.pdf

  2. 2- Fernández Delgado ND, Forrellat Barrios M, Valledor Tristá R, et al. Hemocromatosis hereditaria tipo I: a propósito de cuatro casos confirmados. Rev Cubana Hematol Inmunol Hemoter [Internet]. 2014 [citado 11 Ene 2016];30(1):59-67. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892014000100008

  3. 3- Cervera García IA, García Heredia M, Collazo Mesa T. Introducción del diagnóstico molecular de la hemocromatosis tipo 1 en Cuba. Rev Finlay [Internet]. 2013 [citado 11 Ene 2016];3(2):[aprox. 6 p.]. Disponible en: http://revfinlay.sld.cu/index.php/finlay/article/view/119

  4. 4- Castiella A, Zapata E, Zubiaurre L, et al. Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country. Ann Hepatol. 2015 May-Jun;14(3):333-9. Citado en PUbMed; PubMed PMID: 25864213.

  5. 5- Lima Santos PCJ de, Krieger JE, Pereira AC. Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis. Int J Mol Sci [Internet]. 2012 [citado 11 Ene 2016];13(2):1497-511. Disponible en: http://www.mdpi.com/1422-0067/13/2/1497

  6. 6- Lima Santos PCJ de, Dinardo CL, DelfiniCançado R, et al. Non-HFE hemochromatosis. Rev bras hematol hemoter [Internet]. 2012 [citado 11 Ene 2016];34(4):311-16. Disponible en:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000400019&lng=en

  7. 7- Cançado RD, Chiattone CS. Current approach to hereditary hemochromatosis. Rev bras hematol hemoter [Internet]. 2010 [citado 11 Ene 2016];32(6):469-75. Disponible en: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842010000600011&lng=en&nrm=iso&tlng=en

  8. 8- Adams PC, Barton JC, Guo H, et al. Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study. Ann Hepatol. 2015 May-Jun;14(3):348-53. PubMed PMID: 25864215.

  9. 9- Martins JM. Universal iron fortification of foods: the view of a hematologist. Rev bras hematol hemoter [Internet]. 2012 [citado 11 Ene 2016];34(6):459-63.Disponibleen: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000600017&lng=en&nrm=iso&tlng=en

  10. 10- Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. Hepatology [Internet]. 2011 [citado 11 Ene 2016];54(1):328-43. Disponible en: http://dx.doi.org/10.1002/hep.24330

  11. 11- Fleming RE, Ponka P. Iron Overload in Human Disease. N Engl J Med [Internet]. 2012 [citado 4 Feb 2016];366(4):348-59. Disponible en: http://www.nejm.org/doi/full/10.1056/NEJMra1004967

  12. 12- Muñoz M, García-Erce JA, Remacha AF. Disorders of iron metabolismo. Part II: iron deficiency and iron overload. J Clin Pathol [Internet]. 2011 [citado 4 Feb 2016];64:287-96. Disponible en: http://jcp.bmj.com/content/64/4/287.full.pdf+html

  13. 13- Arancibia JP. Sobrecarga de hierro y enfermedad hepática: aspectos clínicos y terapéuticos. Gastroenterol latinoam [Internet]. 2011 [citado 4 Feb 2016];22(2):152-5. Disponible en: http://sociedadgastro.cl/?option=com_k2&view=item&task=download&id=1285&Itemid=144

  14. 14- Cambruzzi E, Pêgas KL, Zettler CG, et al. Hemocromatose associada a carcinoma hepatocelular e neoplasias extra-hepáticas. Rev AMRIGS [Internet]. 2012 [citado 4 Feb 2016];56(1):67-70. Disponible en: http://www.amrigs.com.br/revista/56-1/0000095683-13_796.pdf

  15. 15- Bardou-Jacquet E, Lainé F, Deugnier Y. Reply to: "Reduced mortality due to phlebotomy in moderately iron-loaded HFE Haemochromatosis? The need for clinical trials". J Hepatol. 2015 Jul;63(1):283-4. doi: 10.1016/j.jhep.2015.03.030. Epub 2015 Apr 1. PubMed PMID: 25841362.




2020     |     www.medigraphic.com