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 inRevista cubana de hematología, inmunología y hemoterapia Vol. 26; no. 2; pp. 62 - 70
Main Authors Gutiérrez Díaz, Adys I., Ramón Rodríguez, Luis G., Breña Escobar, Daycee, Jaime Facundo, Juan C., Serrano Mirabal, Jesús, Arencibia Núñez, Alberto, Domínguez Toirac, Marlen, Machín García, Sergio, Menéndez Veitía, Andrea, González Otero, Alejandro, Svarch, Eva
Format Journal Article
LanguagePortuguese
Published Editorial Ciencias Médicas 01.08.2010
Subjects
HEMATOLOGY
Congenital dyserytropoietic anemias
gen CDAN1
interferón alfa
type interferon
CDAN1 gen
anemias diseritropoyéticas congénitas
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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.
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
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Issue 2
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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