Experiencia en el manejo de las esferocitosis hereditarias en un solo centro a largo plazo / Long term experience in the management of hereditary spherocytosis in a single center

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Humoral immunity in pediatric patients with acute lymphoblastic leukaemia.

BACKGROUND: Cancer and its treatment are a major cause of secondary immunodeficiency in childhood. Leukaemias are the most frequent pediatric neoplastic diseases and 80 % are lymphoblastic (ALL). The objectives of this study are to describe the epidemiology of children with ALL in our hospital and to analyse the evolution of immunoglobulins' concentration at leukaemia's onset, during its treatment and after finishing it. METHODS AND RESULTS: Retrospective study of patients with ALL treated with the SHOP-LAL-94 protocol. 50 patients were studied. Patients were classified in three groups: ALL- cell line B, ALL-cell line B with relapse, and ALL-cell line T. We analysed clinical data and laboratory results (IgG, IgA and IgM concentration) at leukaemia's onset, during its treatment and until 12 months after it.1. ALL-B: 44 patients. At the onset all patients, but a newborn with congenital leukaemia, had normal immunoglobulins. During treatment there was a significant decrease in immunoglobulins'concentration, being IgM the most affected (65 % of patients), followed by IgG (53 % of patients). The mean normalization time of immunoglobulins was 12 months.2. ALL-B with relapse: 7 patients. At relapse 2 patients had an IgM deficit and 1 overall immunoglobulin deficiency. During treatment there was a decrease in all immunoglobulins, which was significant for IgG. IgG and IgM decreased in all patients during relapse's treatment. There were 5 deaths, all with IgM < 186 mg/L.3. ALL-T: 6 patients, one died 3 days after diagnosis. At the onset all patients had normal immunoglobulins. Two patients had a favourable evolution, having a decrease in immunoglobulins'concentration during treatment, significant for IgM, with normalization 6 months after treatment. The rest 3 patients relapsed and died, having a global immunoglobulins'deficit during treatment and previous to death. CONCLUSIONS: At ALL's onset immunoglobulins' concentration is normal. During treatment the majority of patients have immunoglobulins' deficiency, being IgG and IgM the most affected immunoglobulins. A persistent IgM deficit is associated in our series with a higher risk of relapse and death. In patients with a good outcome immunoglobulins normalize before one year after treatment.

Humoral immunity in pediatric patients with acute lymphoblastic leukaemia

Background: Cancer and its treatment are a major cause of secondary immunodeficiency in childhood. Leukaemias are the most frequent pediatric neoplastic diseases and 80 % are lymphoblastic (ALL). The objectives of this study are to describe the epidemiology of children with ALL in our hospital and to analyse the evolution of immunoglobulins' concentration at leukaemia's onset, during its treatment and after finishing it. Methods and results: Retrospective study of patients with ALL treated with the SHOP-LAL-94 protocol. 50 patients were studied. Patients were classified in three groups: ALL- cell line B, ALL-cell line B with relapse, and ALL-cell line T. We analysed clinical data and laboratory results (IgG, IgA and IgM concentration) at leukaemia's onset, during its treatment and until 12 months after it. 1. ALL-B: 44 patients. At the onset all patients, but a newborn with congenital leukaemia, had normal immunoglobulins. During treatment there was a significant decrease in immunoglobulins'concentration, being IgM the most affected (65 % of patients), followed by IgG (53 % of patients). The mean normalization time of immunoglobulins was 12 months. 2. ALL-B with relapse: 7 patients. At relapse 2 patients had an IgM deficit and 1 overall immunoglobulin deficiency. During treatment there was a decrease in all immunoglobulins, which was significant for IgG. IgG and IgM decreased in all patients during relapse's treatment. There were 5 deaths, all with IgM < 186 mg/L. 3. ALL-T: 6 patients, one died 3 days after diagnosis. At the onset all patients had normal immunoglobulins. Two patients had a favourable evolution, having a decrease in immunoglobulins'concentration during treatment, significant for IgM, with normalization 6 months after treatment. The rest 3 patients relapsed and died, having a global immunoglobulins'deficit during treatment and previous to death. Conclusions: At ALL's onset immunoglobulins' concentration is normal. During treatment the majority of patients have immunoglobulins' deficiency, being IgG and IgM the most affected immunoglobulins. A persistent IgM deficit is associated in our series with a higher risk of relapse and death. In patients with a good outcome immunoglobulins normalize before one year after treatment (AU)

Antecedentes: El cáncer y su tratamiento son una causa importante de inmunodeficiencia secundaria en la infancia. Las leucemias son las neoplasias pediátricas más frecuentes y un 80 por ciento son linfoblásticas (LAL). Los objetivos de este estudio son describir la epidemiología de los niños con LAL de nuestro medio y analizar la evolución de la concentración de inmunoglobulinas al comienzo de la leucemia, durante su tratamiento y al finalizarlo. Métodos y resultados: Estudio retrospectivo de pacientes con LAL tratados según el protocolo SHOP-LAL-94. Se analizaron 50 pacientes que se clasificaron en 3 grupos: LAL de línea B, LAL de línea B con recaída, y LAL de línea T. Se recogieron datos clínicos y de laboratorio (concentración de IgG, IgA e IgM) al manifestarse la enfermedad, durante su tratamiento y hasta 12 meses después.1. LAL-B: 44 pacientes. Al inicio todos los pacientes, excepto un neonato con leucemia congénita, presentaron inmunoglobulinas normales. Durante el tratamiento hubo una disminución significativa en la concentración de inmunoglobulinas, siendo la IgM la más afectada (65 por ciento de pacientes), seguida de la IgG (53 por ciento de pacientes). El tiempo medio de normalización de los valores de inmunoglobulinas fue de 12 meses.2. Recaída LAL-B: 7 pacientes. En la recaída 2 pacientes presentaron déficit de IgM y 1 déficit global de inmunoglobulinas. Durante el tratamiento disminuyó la concentración de inmunoglobulinas, resultando significativo el descenso de IgG. En todos los pacientes hubo disminución de IgG e IgM. Hubo 5 exitus, todos con IgM < 186 mg/L.3. LAL-T: 6 pacientes, uno fallecido a los 3 días del diagnóstico. Al inicio todos los pacientes presentaron inmunoglobulinas normales. Dos pacientes evolucionaron favorablemente, presentando disminución en la concentración de inmunoglobulinas durante el tratamiento, que fue significativa para IgM, con recuperación de valores normales 6 meses después del tratamiento. Los restantes 3 pacientes presentaron recaída y fallecieron, presentando déficit global de inmunoglobulinas durante su tratamiento y antes de producirse la muerte. Conclusiones: En el inicio de las LAL la concentración de inmunoglobulinas es normal. Durante el tratamiento la mayoría de pacientes presentan déficit de inmunoglobulinas, siendo la IgG y la IgM las más afectadas. El déficit persistente de IgM se asocia en nuestra serie con un mayor riesgo de recidiva y exitus. En pacientes con evolución favorable las inmunoglobulinas se normalizan antes del año de finalizar el tratamiento (AU)

[Autoimmune hemolytic anemia with complement-positive direct antiglobulin test]. / Anemia hemolítica autoinmune con prueba de antiglobulina positiva a complemento.

Autoimmune hemolytic anemia (AIHI) is an infrequent disease in the pediatric age group. Its diagnosis is given by the direct antiglobulin test (DAT) or Coombs' test, which determines which type of globulin (IgG or complement) is the cause of the hemolysis. The type of globulin involved determines the etiology of AIHI, which is usually confirmed by positive results of other laboratory investigations such as cold agglutinin determination or the Donath-Landsteiner test. We present three cases of AIHI. DAT was positive to complement with diverse etiology: warm antibody with IgG-negative DAT, cold agglutinins associated with infectious mononucleosis, and Doth-Landsteiner antibodies. In all patients, empirical treatment with corticosteroids was initiated. The treatment was withdrawn or continued, depending on the final etiology of AIHI.

Anemia hemolítica autoinmune con prueba de antiglobulina positiva a complemento / Autoimnune hemolytic anemia with complement-positive direct antiglobulin test

La anemia hemolítica autoinmune (AHAI) es una enfermedad poco frecuente en la edad pediátrica. Su diagnóstico se establece mediante la prueba de antiglobulina directa (PAD) o test de Coombs que determina qué tipo de globulina (IgG o complemento) es la causante de la hemólisis. Dependiendo del tipo de globulina que resulte, ésta orienta la etiología de la AHAI, que se suele confirmar a través de la positividad de otras pruebas de laboratorio, como la determinación de crioaglutininas o la prueba de Donath-Landsteiner. Se presentan 3 casos de anemia hemolítica autoinmune con PAD positiva a complemento con etiología diferente: por anticuerpos calientes con PAD negativa a IgG, por crioaglutininas asociadas a mononucleosis infecciosa y por anticuerpos de Donath-Landsteiner. En todos los casos se inició tratamiento empírico con corticoides que se suspendió o continuó según la etiología final de la AHAI. (AU)

[Microangiopathic hemolytic anemia and thrombocytopenia. Thrombotic thrombocytopenic purpura]. / Anemia hemolítica microangiopática ytrombocitopenia. ¿Púrpuratrombótica trombocitopénica?

OBJECTIVE: Thrombotic thrombocytopenic purpura (TTP) or Moschovitz' syndrome is rare and is even rarer in childhood. Clinically, it is characterized by microangiopathic hemolytic anemia, thrombocytopenia, neurologic abnormalities, fever and renal dysfunction. The etiology is still unknown, although different factors such as large von Willebrand factor multimers and prostacyclin have been implicated. The acute form is more frequent, and in most cases the course is fulminant if treatment is not initiated. Laboratory data typically reveal hemolytic anemia, with schistocytes on the peripheral smear, diminished serum haptoglobin, and thrombocytopenia. MATERIAL AND METHODS: We present the clinical cases of two children, aged 4 and 7 respectively, with TTP, but with different evolution and treatment. Evolution was favorable in both patients. The first child recovered spontaneously. In the second plasmapheresis was required and produced remission of all the symptomatology. Normality has been maintained for 36 and 24 months respectively, and the children have presented no clinico-biological alterations.

Anemia hemolítica microangiopática y trombocitopenia. ¿Púrpuratrombótica trombocitopénica? / Microangiopathic hemolytic anemia and thrombocytopenia. ¿thrombotic thrombocytopenic purpura?

La púrpura trombótica trombocitopénica (PTT) o síndrome de Moschcovitz es un síndrome clínico poco frecuente, menos incluso en la edad pediátrica que en la adulta. Clínicamente se caracteriza por la presencia de anemia hemolítica microangiopática, trombocitopenia, sintomatología neurológica, fiebre y afectación renal. Su etiología es aún desconocida, aunque se han relacionado diferentes factores como los multímeros de factor Von Willebrand y la prostaciclina (PGI2). Es más frecuente la forma aguda de la enfermedad, y en la mayoría de los casos el curso es rápido y fulminante si no se inicia tratamiento. Los datos de laboratorio muestran típicamente una anemia de características hemolíticas, con abundantes hematíes fragmentados o esquistocitos, disminución de la haptoglobina y plaquetopenia. Se presentan los casos clínicos de 2 niños, de 4 y 7años respectivamente, con cuadro clínico compatible con PTT, pero con evolución y necesidades terapéuticas diferentes. La evolución de los pacientes fue buena. En el primer caso el cuadro remitió de forma espontánea y en el segundo caso precisó de plasmaféresis, con lo que desaparecieron los síntomas. La normalidad se ha mantenido durante 36 y 24 meses, respectivamente, y no han vuelto a presentar ninguna alteración clinicobiológica (AU)

[Nephrotic syndrome and hereditary spherocytosis (author's transl)]. / Asociación de sindrome nefrótico y esferocitosis hereditaria.

A case of nephrotic syndrome associated with hereditary spherocytosis in a 22 month old girl is reported. In an attempt to explain the relationships between these two entities and alteration of lipidic metabolism, red cells count and serum cholesterol during relapses of nephrotic syndrome were compared. Until now only two cases involving this association have been published.