Anemia diseritropoyética congénita tipo 1.Presentación de un caso
Las anemias diseritropoyéticas congénitas (ADC) son un grupo de trastornos heridatarios de la hematopoyesis caracterizados por anemia refractaria de severidad variable. Se distinguen 3 tipos fundamentales: 1, 2 y 3. El gen responsable de la ADC-1 (CDAN1) se localiza en el cromosoma 15q15, aunque est...
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Published in | Revista cubana de hematología, inmunología y hemoterapia Vol. 26; no. 2; pp. 62 - 70 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | Portuguese |
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Editorial Ciencias Médicas
01.08.2010
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Abstract | Las anemias diseritropoyéticas congénitas (ADC) son un grupo de trastornos heridatarios de la hematopoyesis caracterizados por anemia refractaria de severidad variable. Se distinguen 3 tipos fundamentales: 1, 2 y 3. El gen responsable de la ADC-1 (CDAN1) se localiza en el cromosoma 15q15, aunque estudios moleculares recientes evidencian la heterogeneidad de esta enfermedad. Se presenta una paciente de 3 años con diagnóstico de ADC-1 que a los 3 meses de edad comenzó con anemia severa, hiperbilirrubinemia indirecta, reticulocitosis ligera, altos requerimientos transfusionales y alteraciones del desarrollo pondoestatural dado por baja talla. La prueba de Ham fue negativa y en sangre periférica predominó la macrocitosis. En el examen de la médula ósea se observó diseritropoyesis con hiperplasia eritroide, hematopoyesis megaloblástica, precipitados intracitoplasmáticos, núcleos irregulares, cariorrexis, binuclearidad y puentes internucleares. No hubo respuesta al tratamiento con interferón alfa recombinante. La paciente se encuentra con tratamiento quelante con deferroxamina y se ha planteado la posibilidad de un trasplante de células progenitoras hematopoyéticas alogénico no relacionado. |
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AbstractList | Las anemias diseritropoyéticas congénitas (ADC) son un grupo de trastornos heridatarios de la hematopoyesis caracterizados por anemia refractaria de severidad variable. Se distinguen 3 tipos fundamentales: 1, 2 y 3. El gen responsable de la ADC-1 (CDAN1) se localiza en el cromosoma 15q15, aunque estudios moleculares recientes evidencian la heterogeneidad de esta enfermedad. Se presenta una paciente de 3 años con diagnóstico de ADC-1 que a los 3 meses de edad comenzó con anemia severa, hiperbilirrubinemia indirecta, reticulocitosis ligera, altos requerimientos transfusionales y alteraciones del desarrollo pondoestatural dado por baja talla. La prueba de Ham fue negativa y en sangre periférica predominó la macrocitosis. En el examen de la médula ósea se observó diseritropoyesis con hiperplasia eritroide, hematopoyesis megaloblástica, precipitados intracitoplasmáticos, núcleos irregulares, cariorrexis, binuclearidad y puentes internucleares. No hubo respuesta al tratamiento con interferón alfa recombinante. La paciente se encuentra con tratamiento quelante con deferroxamina y se ha planteado la posibilidad de un trasplante de células progenitoras hematopoyéticas alogénico no relacionado. |
Author | Jaime Facundo, Juan C. Menéndez Veitía, Andrea Ramón Rodríguez, Luis G. Svarch, Eva Breña Escobar, Daycee Arencibia Núñez, Alberto González Otero, Alejandro Domínguez Toirac, Marlen Gutiérrez Díaz, Adys I. Serrano Mirabal, Jesús Machín García, Sergio |
AuthorAffiliation | Hospital Pediátrico Provincial Eliseo Caamaño Instituto de Hematolgía e Inmunología |
AuthorAffiliation_xml | – name: Instituto de Hematolgía e Inmunología – name: Hospital Pediátrico Provincial Eliseo Caamaño |
Author_xml | – sequence: 1 givenname: Adys I. surname: Gutiérrez Díaz fullname: Gutiérrez Díaz, Adys I. organization: Instituto de Hematolgía e Inmunología – sequence: 2 givenname: Luis G. surname: Ramón Rodríguez fullname: Ramón Rodríguez, Luis G. organization: Instituto de Hematolgía e Inmunología – sequence: 3 givenname: Daycee surname: Breña Escobar fullname: Breña Escobar, Daycee organization: Hospital Pediátrico Provincial Eliseo Caamaño – sequence: 4 givenname: Juan C. surname: Jaime Facundo fullname: Jaime Facundo, Juan C. organization: Instituto de Hematolgía e Inmunología – sequence: 5 givenname: Jesús surname: Serrano Mirabal fullname: Serrano Mirabal, Jesús organization: Instituto de Hematolgía e Inmunología – sequence: 6 givenname: Alberto surname: Arencibia Núñez fullname: Arencibia Núñez, Alberto organization: Instituto de Hematolgía e Inmunología – sequence: 7 givenname: Marlen surname: Domínguez Toirac fullname: Domínguez Toirac, Marlen organization: Instituto de Hematolgía e Inmunología – sequence: 8 givenname: Sergio surname: Machín García fullname: Machín García, Sergio organization: Instituto de Hematolgía e Inmunología – sequence: 9 givenname: Andrea surname: Menéndez Veitía fullname: Menéndez Veitía, Andrea organization: Instituto de Hematolgía e Inmunología – sequence: 10 givenname: Alejandro surname: González Otero fullname: González Otero, Alejandro organization: Instituto de Hematolgía e Inmunología – sequence: 11 givenname: Eva surname: Svarch fullname: Svarch, Eva organization: Instituto de Hematolgía e Inmunología |
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DocumentTitleAlternate | Type 1 congenital dyserytropoieitc anemia: A case presentation |
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Keywords | Congenital dyserytropoietic anemias gen CDAN1 interferón alfa type interferon CDAN1 gen anemias diseritropoyéticas congénitas |
Language | Portuguese |
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Title | Anemia diseritropoyética congénita tipo 1.Presentación de un caso |
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