[Thrombocytosis in the oncology-haematology clinic: description, aetiological diagnosis and progression thrombocytosis]. / Trombocitosis en la consulta de oncohematología. Descripción, diagnóstico etiológico y evolución.

INTRODUCTION: Thrombocytosis is a common cause of patient referral to a paediatric haematologist specialist which requires a significant number of laboratory tests and visits to confirm the diagnosis. The aim of our study has been to analyse the characteristics of patients referred to our centre for specialised thrombocytosis assessment. Based on this assessment we established the criteria patients must fulfil to be recommend for further hospital study. PATIENTS AND METHODS: We categorised the 33 patients referred for thrombocytosis assessment according to sex, age, origin, personal and family history, platelet count at diagnosis and the reason why the red and white blood count at diagnosis (Haemoglobin, mean corpuscular volume, mean corpuscular haemoglobin, leukocyte, neutrophils, lymphocyte and monocyte count), maximum platelet count during follow-up and other complementary examinations were done. The final diagnosis itself and number of previous visits before were also considered. The classification used to grade thrombocytosis was: low (500-700 X 10(3)/microl), mild (700-900 x 10(3)/microl), severe (900-1.000 x 10(3)/microl) and extreme (> 1.000 x 10(3)/microl). RESULTS: There was no predominance of males or females. 45 % of patients were under 2 years old and 55 % of them came from their primary care centre. The mean platelet count at the first medical visit was 669,000 (mild thrombocytosis). During follow-up, 24 % of the patients reached extreme platelets levels. In 28 % the initial blood count was performed because of an infection. The most frequently requested laboratory test was iron metabolism (82 % of the cases). All cases correspond to secondary thrombocytosis (48 % were reactive to infections, 24 % secondary to iron deficiency, and 15 % were associated to both causes). The mean number of visits before hospital discharge was 5.12. CONCLUSIONS: The finding of thrombocytosis in the majority of the cases studied was casual or in the context of an infectious process. Most of the thrombocytosis were mild. Due to the extremely low incidence of primary thrombocytosis in childhood and the fact that diagnosis is made by exclusion of other possibilities, the initial study of these patients should be done in primary care centres. The first conditions to be ruled out are infectious, inflammatory or bleeding processes. Once these causes are excluded, the most useful complementary test is to measure iron level given the relation between iron deficiency and thrombocytosis. Once these causes are ruled out and thrombocytosis persists, it would then be indicated to refer the patient to a paediatric oncology-haematology department for a more exhaustive follow-up.

Trombocitosis en la consulta de oncohematología. Descripción, diagnóstico etiológico y evolución / Thrombocytosis in the oncology-haematology clinic: Description, aetiological diagnosis and outcome

Introducción: La trombocitosis es un motivo frecuente de consulta en oncohematología infantil, y precisa un importante número de visitas y determinaciones analíticas para su diagnóstico o resolución. Nuestro objetivo ha sido evaluar las características de los pacientes derivados a nuestro servicio en los últimos meses para estudio de trombocitosis y establecer cuáles deberían ser los pacientes que precisan un estudio más exhaustivo en el hospital. Pacientes y métodos: Se determina en 33 pacientes derivados por este motivo el sexo, el rango de edad, la procedencia, los antecedentes personales y familiares, el grado de trombocitosis por la que se consulta y la cifra máxima durante el seguimiento, el motivo por el que se realiza la primera analítica, los valores hematimétricos en la primera analítica (hemoglobina [Hb], volumen corpuscular medio [VCM], hemoglobina corpuscular media [HCM], leucocitos [linfocitos y neutrófilos]), las exploraciones complementarias realizadas, el diagnóstico y el número de visitas que precisaron antes del alta. Se clasifica la trombocitosis en leve (500-700 × 103/μl), moderada (700-900 × 103/μl), grave (900-1.000 × 103/μl) y extrema (> 1.000 × 103/μl). Resultados: No hubo predominancia de sexos. El 45 % de los pacientes eran menores de 2 años. Procedían en un 55 % de su centro de salud. La cifra media de plaquetas por la que consultaron fue de 669.000 (trombocitosis leve). En el seguimiento llegaron a cifras extremas el 24 %. En el 28 % la analítica se había realizado por un cuadro infeccioso. La exploración complementaria más solicitada fue el metabolismo del hierro (en el 82 %). Todos se corresponden con trombocitosis secundarias (el 48 % reactivas a infecciones, el 24 % secundarias a ferropenia y el 15 % por ambas causas). El número medio de visitas ha sido de 5,12. Conclusiones: El hallazgo de la trombocitosis es en la mayoría de los casos casual o en el contexto de un cuadro infeccioso y, además, son leves. Dada la baja incidencia de trombocitosis primaria en la infancia y que el diagnóstico es de exclusión, se debería iniciar el estudio de la misma en la consulta de atención primaria, descartando inicialmente una causa infecciosa, inflamatoria o secundaria a sangrado. Una vez descartadas estas causas la prueba complementaria más rentable es el metabolismo del hierro, dada la asociación de ferropenia con trombocitosis. Si también se excluye esta etiología y se comprueba la persistencia de la trombocitosis, estaría indicado derivar al paciente a un servicio de oncohematología infantil para completar estudio (AU)

Introduction: Thrombocytosis is a common cause of patient referral to a paediatric haematologist specialist which requires a significant number of laboratory tests and visits to confirm the diagnosis. The aim of our study has been to analyse the characteristics of patients referred to our centre for specialised thrombocytosis assessment. Based on this assessment we established the criteria patients must fulfil to be recommend for further hospital study. Patients and methods: We categorised the 33 patients referred for thrombocytosis assessment according to sex, age, origin, personal and family history, platelet count at diagnosis and the reason why the red and white blood count at diagnosis (Haemoglobin, mean corpuscular volume, meen corpuscular haemoglobin, leukocyte, neutrophils, lymphocyte and monocyte count), maximum platelet count during follow-up and other complementary examinations were done. The final diagnosis itself and number of previous visits before were also considered. The classification used to grade thrombocytosis was: low (500-700 × 103/μl), mild (700-900 × 103/μl), severe (900-1.000 × 103/μl) and extreme (> 1.000 × 103/μl). Results: There was no predominance of males or females. 45 % of patients were under 2 years old and 55 % of them came from their primary care centre. The mean platelet count at the first medical visit was 669,000 (mild thrombocytosis). During follow-up, 24 % of the patients reached extreme platelets levels. In 28 % the initial blood count was performed because of an infection. The most frequently requested laboratory test was iron metabolism (82 % of the cases). All cases correspond to secondary thrombocytosis (48 % were reactive to infections, 24 % secondary to iron deficiency, and 15 % were associated to both causes). The mean number of visits before hospital discharge was 5.12. Conclusions: The finding of thrombocytosis in the majority of the cases studied was casual or in the context of an infectious process. Most of the thrombocytosis were mild. Due to the extremely low incidence of primary thrombocytosis in childhood and the fact that diagnosis is made by exclusion of other possibilities, the initial study of these patients should be done in primary care centres. The first conditions to be ruled out are infectious, inflammatory or bleeding processes. Once these causes are excluded, the most useful complementary test is to measure iron level given the relation between iron deficiency and thrombocytosis. Once these causes are ruled out and thrombocytosis persists, it would then be indicated to refer the patient to a paediatric oncology-haematology department for a more exhaustive follow-up (AU)

[Evaluation of systematic neonatal screening for sickle cell diseases in Madrid three years after its introduction]. / Evaluación en el tercer año de implantación del cribado neonatal universal de anemia falciforme en la Comunidad de Madrid.

BACKGROUND: Sickle cell anemia is a hereditary disease which, as a result of migration, constitutes one of the most frequent genetic disorders in northwest Europe. Complications secondary to this disease are common during the first 3 years of life and early diagnosis has been recommended to reduce their development. The autonomous community of Madrid began to perform universal neonatal screening for hemoglobinopathies in May 2003. This study presents the results of the first 32 months of this screening program. METHODS: A prospective, descriptive study was designed to include all the neonates born in centers in the autonomous community of Madrid from May 2003 to December 2005. A heel prick dried blood spot from the Guthrie card was analyzed by high-performance liquid chromatography to detect hemoglobin F, A, S, C, D and E. RESULTS: A total of 190,238 newborns were analyzed, and 1060 hemoglobin variants (5.57 for every 1000 births) were detected. Thirty-one were sickle cell diseases and appropriate antibiotics, vaccination and comprehensive care were initiated. Prenatal diagnosis of subsequent pregnancies was performed in three families after parental investigation. Carrier parents were from 44 countries of origin. CONCLUSIONS: Although sickle cell disease was considered anecdotic in Spain until recently, the diagnosis of this entity has markedly increased as a result of immigration. The universal screening program is expected to reduce morbidity and mortality in the first years of life.

Tumor de Wilms en paciente trasplantado renal / Wilms' tumor in a renal transplant patient

Los pacientes portadores de trasplantes tienen un riesgo superior al resto de la población de padecer neoplasias. En el caso de los trasplantados renales éste es aún mayor, pues, además de tomar una medicación inmunodepresora, en muchas ocasiones han estado expuestos durante largos períodos de tiempo a técnicas de diálisis, con el consiguiente riesgo de haber desarrollado enfermedad renal quística adquirida. Se expone el caso de una niña de 6años portadora de un trasplante renal normofuncionante desde los 2 años, que acude a urgencias por presentar un cuadro de dolor abdominal, diagnosticada finalmente de un tumor de Wilms en el riñón nativo izquierdo. Se incide sobre la utilidad de la ecografía en este tipo de pacientes (hay protocolos que recomiendan su realización periódica como método de cribado de procesos neoplásicos) y sobre la importancia de reconocer determinados síndromes o condiciones predisponentes al desarrollo de tumores en este grupo de pacientes, que modificarán la actitud terapéutica

Organ transplant recipients are at high risk of developing tumors. In the case of kidney transplantation, the risk is even higher because, in addition to the immunosuppressive therapy, many of these patients have undergone long periods of dialysis and thus, have developed acquired renal cystic disease. We report the case of a 6-year-old girl who had received a renal transplant at the age od 2, with normal function. She was brought to the emergency service of our hospital with abdominal pain, and was diagnosed as having Wilms´tumor in her left native kidney. We stress the usefulness of ultrasonography in these patients (some protocols recommend it be performed periodically as a screening test to defect neoplasms) and the importance of identifying certain syndromes or conditions that predispose to the development of malignancies in this group of patients, a circumstance that may affect the therapeutic approach

Evaluación en el tercer año de implantación del cribado neonatal universal de anemia falciforme en la Comunidad de Madrid / Evaluation of systematic neonatal screening for sickle cell diseases in Madrid three years after its introduction

Antecedentes: La anemia falciforme es una enfermedad hereditaria que como resultado de las migraciones, constituye una de las alteraciones genéticas más frecuentes en el noroeste de Europa. Las complicaciones secundarias a la enfermedad son frecuentes durante los primeros 3 años de vida, y se viene recomendando un diagnóstico precoz para disminuirlas. La Comunidad de Madrid (CM) inició el cribado universal neonatal de hemoglobinopatías en mayo de 2003. El objetivo de este trabajo es presentar los resultados de los primeros 32 meses de implantación de este programa. Métodos: Estudio prospectivo, descriptivo que incluye a toda la población de recién nacidos en cualquier centro de la CM desde mayo de 2003 a diciembre de 2005. La muestra de sangre fue la primera prueba del talón obtenida en las maternidades de forma sistemática a partir de las 48 h de vida del niño. Se analizó por cromatografía líquida de alta resolución (HPLC) para detectar hemoglobina (Hb) F, A, S, C, D y E. Resultados: Se analizaron 190.238 niños y se detectaron 1.060 variantes de hemoglobina (5,57 por cada 1.000 nacimientos). Un total de 31 de ellas fueron variantes de enfermedad falciforme (0,16 por cada 1.000 nacimientos), instaurándose antibioterapia profiláctica, vacunación apropiada y cuidados globales. El estudio de progenitores motivó la realización en embarazos posteriores de diagnóstico prenatal en 3 familias. El origen de los padres portadores de variantes de Hb abarcó 44 países. Conclusiones: Aunque la enfermedad de células falciformes ha sido considerada anecdótica en España hasta fechas recientes, el aumento en la inmigración ha supuesto un notable incremento en su diagnóstico. Se espera que el programa de cribado neonatal disminuya la morbilidad y mortalidad en los primeros años de vida

Background: Sickle cell anemia is a hereditary disease which, as a result of migration, constitutes one of the most frequent genetic disorders in northwest Europe. Complications secondary to this disease are common during the first 3 years of life and early diagnosis has been recommended to reduce their development. The autonomous community of Madrid began to perform universal neonatal screening for hemoglobinopathies in May 2003. This study presents the results of the first 32 months of this screening program. Methods: A prospective, descriptive study was designed to include all the neonates born in centers in the autonomous community of Madrid from May 2003 to December 2005. A heel prick dried blood spot from the Guthrie card was analyzed by high-performance liquid chromatography to detect hemoglobin F, A, S, C, D and E. Results: A total of 190238 newborns were analyzed, and 1060 hemoglobin variants (5.57 for every 1000 births) were detected. Thirty-one were sickle cell diseases and appropriate antibiotics, vaccination and comprehensive care were initiated. Prenatal diagnosis of subsequent pregnancies was performed in three families after parental investigation. Carrier parents were from 44 countries of origin. Conclusions: Although sickle cell disease was considered anecdotic in Spain until recently, the diagnosis of this entity has markedly increased as a result of immigration. The universal screening program is expected to reduce morbidity and mortality in the first years of life

[Sickle cell disease: registry of the Spanish Society of Pediatric Hematology]. / Enfermedad de células falciformes: registro de la Sociedad Española de Hematología Pediátrica.

INTRODUCTION: Sickle cell disease (SCD), a genetic anemia, is currently an emerging health problem in Spain. Since 2000, The Spanish Society of Pediatric Hematology has maintained a registry of these patients. The data corresponding to 2004 are presented herein. PATIENTS AND METHODS: Information was sent by different national hospitals. Pediatric patients with SCD followed-up during 2003 were registered in the first quarter of 2004. Data on epidemiology, diagnosis, treatment and outcome in each patient were gathered. RESULTS: A total of 138 patients in 24 national hospitals were registered. Of these, 99 were still under follow-up. There was no significant difference in sex. The mean age was 8.2 years. Seventy-eight percent of the patients were homozygous. Forty-four percent were born in Africa but 76% had abnormal genes originating in Africa. Neurophysiologic disorders were detected in 36% of the patients. Symptomatic treatment was given in 65%, hydroxyurea in 27%, hypertransfusional therapy in 3%, and chelation therapy, indicated for ferric overload, was provided in 4%. None of the patients underwent stem cell transplantation. Acute complications requiring hospitalization occurred in 21%, and chronic complications were observed in 27%. The most frequent chronic complications were delayed height and weight gain and liver and biliary tract disorders. Two patients died. CONCLUSIONS: This study confirms a highly significant increase in the prevalence of pediatric patients with SCD in the last 4 years, requiring greater resources to be devoted to the diagnosis and follow-up of this disease.

Enfermedad de células falciformes: registro de la Sociedad Española de Hematología Pediátrica / Sickle cell disease: registry of the spanish society of pediatric hematology

Introducción La enfermedad de células falciformes (ECF), anemia de origen genético, es un problema de salud emergente en España. La Sociedad Española de Hematología Pediátrica realiza desde el año 2000 un registro de estos pacientes. Se presentan los datos correspondientes a la recogida de 2004. Pacientes y métodos De la información enviada por diferentes hospitales nacionales se registraron en el primer trimestre de 2004 los pacientes pediátricos con ECF en seguimiento en 2003 y se recogieron variables epidemiológicas, relativas al diagnóstico, tratamiento y evolución de cada paciente. Resultados Se registraron un total de 138 enfermos, 99 aún en seguimiento, de 24 hospitales nacionales, sin diferencia significativa entre sexos y con una media de edad de 8,2 años. Eran homozigotos (SS) el 78 %. El 44 % habían nacido en África, pero tenían genes anómalos procedentes de África el 76 %. Se detectaron anomalías neuropsiquiátricas en el 36 % de los pacientes investigados. Se hizo tratamiento sólo sintomático en el 65 %, tratamiento con hidroxiurea en el 27 %, terapia hipertransfusional en el 3 % y quelación por sobrecarga férrica en el 4 %. Ningún paciente fue sometido a trasplante de progenitores hematopoyéticos ese año. Presentaron complicaciones agudas con necesidad de hospitalización el 21 % y complicaciones crónicas el 27 %. De éstas, las más frecuentes fueron los retrasos en la curva ponderoestatural y trastornos hepatobiliares. Dos pacientes fallecieron. Conclusiones Se confirma en los últimos 4 años un incremento nacional muy significativo de pacientes pediátricos con ECF, que obligaría a un mayor esfuerzo en su diagnóstico y seguimiento

Introduction Sickle cell disease (SCD), a genetic anemia, is currently an emerging health problem in Spain. Since 2000, The Spanish Society of Pediatric Hematology has maintained a registry of these patients. The data corresponding to 2004 are presented herein. Patients and methods Information was sent by different national hospitals. Pediatric patients with SCD followed-up during 2003 were registered in the first quarter of 2004. Data on epidemiology, diagnosis, treatment and outcome in each patient were gathered. Results A total of 138 patients in 24 national hospitals were registered. Of these, 99 were still under follow-up. There was no significant difference in sex. The mean age was 8.2 years. Seventy-eight percent of the patients were homozygous. Forty-four percent were born in Africa but 76 % had abnormal genes originating in Africa. Neurophysiologic disorders were detected in 36 % of the patients. Symptomatic treatment was given in 65 %, hydroxyurea in 27 %, hypertransfusional therapy in 3 %, and chelation therapy, indicated for ferric overload, was provided in 4 %. None of the patients underwent stem cell transplantation. Acute complications requiring hospitalization occurred in 21 %, and chronic complications were observed in 27 %. The most frequent chronic complications were delayed height and weight gain and liver and biliary tract disorders. Two patients died. Conclusions This study confirms a highly significant increase in the prevalence of pediatric patients with SCD in the last 4 years, requiring greater resources to be devoted to the diagnosis and follow-up of this disease

[Early detection of sickle cell anemia and other hemoglobinopathies in neonates in the Autonomous Community of Madrid. A pilot study]. / Detección precoz neonatal de anemia falciforme y otras hemoglobinopatías en la comunidad autónoma de Madrid. Estudio piloto.

OBJECTIVE: To determine the incidence of sickle cell anemia and other hemoglobinopathies in the neonatal population of the Autonomous Community of Madrid and to determine the need for a screening program. METHODS: The study was performed with the same blood spot specimen dried on filter paper used for congenital hypothyroidism and congenital adrenal hyperplasia screening. All neonates born in the public and private hospitals of the Autonomous Community of Madrid were included and universal-type screening was performed. High-performance liquid chromatography (HPLC) was used to detect variant hemoglobins. The variant automated system was used to separate and identify hemoglobin F, A1c, A, S, C, A2/E and D. To confirm variant hemoglobins, specific HPLC for -thalassemia (ion exchange) and globin chains (reversed phase) with a more expanded gradient were used. RESULTS: A total of 29 253 specimens were screened and 98 cases of variant hemoglobins were detected. The overall incidence was 1/299. There were five cases of sickle cell disease (HbFS and HbFS(tal), with an incidence of 1/5.851, and 71 cases of sickle cell traits (1/412). CONCLUSIONS: These results confirm the need to include screening for sickle cell disease and other hemoglobinopathies in our neonatal program.

Detección precoz neonatal de anemia falciforme y otras hemoglobinopatías en la comunidad autónoma de Madrid. Estudio piloto / Early detection of sickle cell anemia and other hemoglobinopathies in neonates in the autonomous community of Madrid. A pilot study

Objetivo: Conocer la incidencia de anemia falciforme y otras hemoglobinopatías en la población neonatal de la comunidad de Madrid y determinar la necesidad de realizar su cribado neonatal. Métodos El estudio se realiza sobre el mismo espécimen de sangre seca impregnada en papel, que se utiliza para la detección precoz de hipotiroidismo congénito e hiperplasia suprarrenal congénita. Se han incluido especímenes de sangre de recién nacidos, procedentes de todos los hospitales públicos y privados del ámbito de la comunidad de Madrid (CAM). El estudio se ha realizado de forma universal. La detección de variantes de hemoglobina se lleva a cabo mediante cromatografía líquida de alta resolución (HPLC). El sistema automático VARIANT separa e identifica las hemoglobinas F, A1c, A, S, C, E/A2 y D. La presencia de variantes se confirma con cromatografías específicas para betatalasemia (intercambio iónico) y cadenas de globina (fase reversa), con gradientes más expandidos. Resultados Se han analizado un total de 29.253 especímenes de sangre y se han detectado 98 casos con alguna variante de hemoglobina, con una incidencia global de 1/299, cinco de ellos fueron diagnosticados de anemia falciforme (HbFS y HbFS tal), con una incidencia de 1/5.851 y 71 casos con rasgo falciforme, con una incidencia de 1/412.Conclusiones Los resultados obtenidos reflejan la necesidad de incluir la detección de anemia falciforme dentro del programa de cribado neonatal de la comunidad de Madrid (AU)

[Renal cell carcinoma in children]. / Carcinoma de células renales.

Renal cell carcinoma is infrequent in children; consequently it is important to communicate its diagnosis and follow up. The behavior of this type of tumor is better characterized in adults and in this setting the treatment of choice is surgical resection. However, chemo- and radiotherapy for metastatic tumors has not been well defined. Our objective was to report the experience of a single pediatric institution in the diagnosis and treatment of renal cell carcinoma and to review the literature on this subject. We retrospectively reviewed patients diagnosed with renal cell carcinoma in the last twenty years. Only three patients were found, and we describe their clinical features and therapeutic approach. Although renal cell carcinoma is rare in children, clinical suspicion of this disease in children older than 5 years with renal masses is very important since the diagnostic and therapeutic approach differs from that for Wilms' tumor. The main prognostic factors seem to be staging and complete resection. Multicenter collaboration is required to standardize the treatment of tumors in advanced stages and to define the role of allogeneic stem cell transplantation in metastatic tumors.

Carcinoma de células renales / Renal cell carcinoma in children

El carcinoma renal es poco frecuente en niños, por lo que es importante comunicar el diagnóstico y seguimiento de estos casos. Su comportamiento en adultos es más conocido, y se sabe que el tratamiento de elección es la extirpación quirúrgica. Sin embargo, el tratamiento de los tumores metastásicos con quimioterapia y/o radioterapia no está bien definido. Nuestro objetivo es aportar la experiencia de un centro en el diagnóstico y tratamiento del carcinoma renal pediátrico, así como revisar la bibliografía al respecto. Se revisan de forma retrospectiva los pacientes diagnosticados de carcinoma renal en los últimos 20 años. La muestra está formada por 3 niños, y se describen las características clínicas de los pacientes y su tratamiento. Se insiste en que aunque el carcinoma renal es una entidad rara en niños, es importante sospecharlo en pacientes mayores de 5 años con masas renales, ya que la aproximación diagnóstica y terapéutica difiere del tumor de Wilms. La estadificación y la resección completa parecen ser los factores pronósticos fundamentales. Es necesaria la colaboración de varios centros para la estandarización del tratamiento de los tumores en estadios avanzados, valorando el papel del trasplante alogénico de progenitores hematopoyéticos en tumores metastásicos (AU)

Efectos secundarios tardíos en pacientes pedíátricos diagnosticados de cáncer. Alteraciones endocrinas / Late adverse in pediatric patients diagnosed with cancer: endocrine changes

En los últimos 25 años, con la aplicación de los nuevos fármacos quimioterápicos en combinación con radioterapia y/o cirugía, se han conseguido importantes avances en la supervivencia de los pacientes diagnosticados de cáncer, con mayor expresión en la población infantil, en la que se ha llegado a conseguir un 65-70 por ciento, alcanzando el 90 por ciento en algunos tipos de tumores, como en el tumor de Wilms y el linfoma de Hodgkin. Tan altas supervivencias conllevan el riesgo de sufrir efectos adversos tardíos directamente relacionados con las técnicas terapéuticas empleadas, y su interacción con el paciente y los factores tumorales. La mayor vulnerabilidad de los tejidos a los efectos secundarios del tratamiento está incrementada durante los periodos de rápida proliferación. Cualquier sistema del organismo puede ser lugar de elección para la aparición de secuelas postratamiento. Una de las alteraciones más frecuentes es la disminución del crecimiento lineal del niño, presente en el 30 por ciento de los pacientes, seguida de las alteraciones endocrinas y de la aparición de segundos tumores lineal del niño, presente en el 30 por ciento de los pacientes, seguida de las alteraciones endocrinas y de la aparición de segundos tumores (AU)