medigraphic.com
ISSN 1727-897X (Electronic)

2021, Number 6

<< Back Next >>

Medisur 2021; 19 (6)

Giant splenomegaly due to Gaucher disease

Sardiñas PR, Guerra LOA, Verdecia, Roig VS

Language: Spanish
References: 5
Page: 1021-1027
PDF size: 305.60 Kb.


ABSTRACT

Gaucher disease is the most common disease of the lysosomal storage diseases group comprised within innate errors of metabolism. There is glucocerebrosides accumulation in different organs and as a consequence, the development of symptoms and multisystemic signs that are established in a chronic and progressive way, such as: visceromegaly, bone destruction and peripheral cytopenias. A 43-years-old male patient is presented with a diagnosis of this disease since childhood, who developed giant splenomegaly with hypersplenism, for which he required splenectomy, obtaining good results with surgical treatment.


REFERENCES

  1. Colquicocha M, Cucho J, Eyzaguirre RM, Manassero G, Moreno MC, Salinas K, et al. Guía para diagnóstico y tratamiento de la Enfermedad de Gaucher. Rev Med Hered.[Internet] 2015 [citado 10 /12/2020] ;26:[aprox. 8 p].Disponible en:http://www.scielo.org.pe/pdf/rmh/v26n2/a07v26n2.pdf

  2. Drelichman G, Basack N, Fernández M, Watman N, Bolesina M, et.al. Consenso para la Enfermedad de Gaucher: Grupo Argentino de diagnóstico y tratamiento de la Enfermedad de Gaucher. Hematología.[Internet] 2013[citado 10/12/2020];17:[aprox. 5 p].Disponible en:http://www.sah.org.ar/revista/numeros/vol17_supl2012_consenso.pdf

  3. Zimran A, Belmatoug N, et,al. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). American Journal of Hematology.[Internet] 2018[citado 10/12/2020];93(2):[aprox. 7 p].Disponible en:Disponible en:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814927/

  4. Eusebio Ponce E, García LJ. Enfermedad de Gaucher. An Real Acad Med Cir Vall[Internet] 2015[citado 10/12/2020];52: [aprox. 17 p.

  5. Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, et al. Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. Am J Hematol.[Internet] 2017[citado 10 /12/2020];92:[aprox. 10 p].Disponible en:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600096/




2020     |     www.medigraphic.com