[Hemophagocytic syndrome: Clinical characterization and follow-up of a Chilean pediatric cohort]. / Síndrome hemofagocítico: Caracterización clínica y seguimiento de una cohorte pediátrica chilena.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a severe syndrome, potentially lethal, with a pathological activation of the immune system and an extreme hyperinflammatory response. The etiology is classified in primary HLH (familiar or genetic) and secondary (infectious, oncological, and rheumatological diseases). AIM: To analyze clinical and laboratory characteristics, treatment, and follow-up rates in pediatric patients with HLH. METHODS: A pediatric cohort of patients with HLH diagnosis attending in a tertiary hospital between January 2000 to February 2019 was analysed. RESULTS: 23 hospitalized patients were recruited with a median of 36 months of age. The most frequent clinical and laboratory findings were fever, cytopenias, and hyperferritinemia. The most frequent aetiologies were infectious (Epstein Barr virus and citomegalovirus) and rheumatological diseases. The global mortality was 35%, there was no significant difference between etiologies. DISCUSSION: Considering the high mortality of HLH it is very important to have a high grade of suspicion that allows treating at an early stage. It would be important to determine clinical and laboratory predictors in multicentric studies.

Síndrome hemofagocítico: caracterización clínica y seguimiento de una cohorte pediátrica chilena / Hemophagocytic syndrome: clinical characterization and follow-up of a Chilean pediatric cohort

INTRODUCCIÓN: La linfohistiocitosis hemofagocítica (HLH en inglés) es un síndrome clínico grave, potencialmente fatal, caracterizado por una activación patológica del sistema inmune y una respuesta hiperinflamatoria extrema. Según su etiología se clasifica en primario (genético o familiar) y secundario (gatillado por causas infecciosas, oncológicas o reumatológicas). OBJETIVOS: Describir y analizar las características clínicas y laboratorio, tratamiento recibido y seguimiento en pacientes pediátricos con diagnóstico de HLH. PACIENTES Y MÉTODOS: Se describió una cohorte pediátrica en pacientes hospitalizados con diagnóstico de HLH en un centro terciario universitario entre enero de 2000 y febrero de 2019. RESULTADOS: Se reclutaron 23 pacientes pediátricos con una mediana de edad de 36 meses. Los hallazgos clínicos y de laboratorio más frecuentes fueron fiebre, citopenias e hiperferritinemia. La etiología más frecuente fue infecciosa (virus Epstein Barr/citomegalovirus) e inmunológica/reumatológica. La mortalidad global fue de 35%, sin diferencias significativas según etiología. DISCUSIÓN: Dada su alta mortalidad es relevante un alto índice de sospecha que permita instaurar terapia de forma precoz. Son necesarios estudios multicéntricos para determinar predictores clínicos y de laboratorio con valor pronóstico.

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a severe syndrome, potentially lethal, with a pathological activation of the immune system and an extreme hyperinflammatory response. The etiology is classified in primary HLH (familiar or genetic) and secondary (infectious, oncological, and rheumatological diseases). AIM: To analyze clinical and laboratory characteristics, treatment, and follow-up rates in pediatric patients with HLH. METHODS: A pediatric cohort of patients with HLH diagnosis attending in a tertiary hospital between January 2000 to February 2019 was analysed. RESULTS: 23 hospitalized patients were recruited with a median of 36 months of age. The most frequent clinical and laboratory findings were fever, cytopenias, and hyperferritinemia. The most frequent aetiologies were infectious (Epstein Barr virus and citomegalovirus) and rheumatological diseases. The global mortality was 35%, there was no significant difference between etiologies. DISCUSSION: Considering the high mortality of HLH it is very important to have a high grade of suspicion that allows treating at an early stage. It would be important to determine clinical and laboratory predictors in multicentric studies.

[Sickle cell disease: A diagnosis to keep in mind]. / Enfermedad de células falciformes: Un diagnóstico para tener presente.

Sickle cell disease (SCD) is an autosomal recessive genetic disorder. It is the most frequent structural hemoglobinopathy worldwide, and it is produced by an alteration in the globin chain genes. In Chile, there is no data on the prevalence of SCD since it is considered a very rare condition. The incidence of this disease has been increasing due to migration of people from areas with greater presence of SCD. It is important to know and consider this diagnosis in a selected group of patients with anemia, in order to prevent and treat the different complications of this disease. This article reviews the most recent information that shows new concepts in the knowledge of the physiopathology, and especially publications of guidelines and consensus in relation to the diagnosis and management of this con dition.

Enfermedad de células falciformes: un diagnóstico para tener presente / Sickle cell disease: a diagnosis to keep in mind

La enfermedad de células falciformes (ECF) es un trastorno genético autosómico recesivo. Es la hemoglobinopatía estructural más frecuente en todo el mundo y se produce por alteración en los genes de la cadena de globina. En Chile, no hay datos sobre la prevalencia de la ECF ya que es considerada una condición muy rara. La incidencia de esta enfermedad ha venido aumentando debido a la migra ción de personas de áreas con mayor prevalencia de ECF. Por esta razón resulta importante conocer y considerar este diagnóstico en un grupo seleccionado de pacientes con anemia, para prevenir y tratar las diferentes complicaciones de la enfermedad. En este artículo se revisan los nuevos aportes en el conocimiento de la fisiopatología, con especial énfasis en aquellas publicaciones de consenso y guías relacionadas al diagnóstico y manejo de esta entidad.

Sickle cell disease (SCD) is an autosomal recessive genetic disorder. It is the most frequent structural hemoglobinopathy worldwide, and it is produced by an alteration in the globin chain genes. In Chile, there is no data on the prevalence of SCD since it is considered a very rare condition. The incidence of this disease has been increasing due to migration of people from areas with greater presence of SCD. It is important to know and consider this diagnosis in a selected group of patients with anemia, in order to prevent and treat the different complications of this disease. This article reviews the most recent information that shows new concepts in the knowledge of the physiopathology, and especially publications of guidelines and consensus in relation to the diagnosis and management of this con dition.

Cáncer medular de tiroides esporádico de curso agresivo, en un adolescente varón / Madullary thyroid cancer in a 14 years old male: case report

Medullary thyroid cancer can appear sporadically or as part of a multiple endocrine neoplasia type 2A or 2B. In both conditions, it is associated with mutations of proto oncogene RET (rearranged during transfection). We report a 14 years old male presenting with a bone lesion in the skull followed by a hard cevical mass. A CAT scan showed an invasive thyroid nodule with involvement of regional lymph nodes , osteolytic lesions in skull, spine and ribs and liver metastases. Serum calcitonin was markedly elevated (9752 pg/ml, normal below 14 pg/ml). Fine needle biopsy showed a medullary thyroid carcinoma and the patient was subjected to a total thyroidectomy and radical cervical dissection. In the postoperative period the patient required calcium and vitamin D supplementation. Serum calcitonin 15 days after surgery was 11.692 pg/ml. Palliative radiotherapy was indicated for spine pain. A percutaneous gastrostomy was indication for nutritional support. The molecular study did not detect mutations of RET gene between exons 10 and 16.

Mortalidad por cáncer infantil en Chile: modelo de transición epidemiológica en la infancia / Pediatric cancer mortality in Chile: model of epidemiological transition in infancy

Background: The process of demographic and epidemiological transition that occurred in Chile during the second half of the 20th century has been broadly described, with special emphasis in adults diseases. Objective: Characterize the process of epidemiological transition in infancy, using as model a disease that affects exclusively this age group (i.e. childhood cancer). Method: The trend of childhood cancer mortality rate and its proportion of deaths in relation to other diseases was analyzed for the period 1960-2000. Results: Childhood cancer mortality rate reduced 41.4 percent between 1960 and 2000 (5.8 to 3.4/100 000 children younger than 15-years old), mainly as a consequence of important advances in technology and public health organization. On the contrary, childhood cancer proportion of deaths increased 11-fold during the same period of time (4 to 43/1 000 children younger than 15 years-old), mainly as a consequence of reduction in transmittable diseases and malnutrition mortality rates. Conclusion: Knowing the characteristics of the epidemiological transition in infancy implies important changes and challenges for the Chilean pediatrician of the 21st century, whose professional practice will be performed in a different scenario compared to the mid-20th century.

Antecedentes: El proceso de transición demográfica y epidemiológica ocurrido en Chile durante la segunda mitad del siglo XX ha sido ampliamente descrito, con especial énfasis en patologías propias de la adultez. Objetivo: Caracterizar el proceso de transición epidemiológica en la infancia, tomando como modelo una patología que afecta a este grupo etario. Metodología: Utilizando como patología modelo el cáncer infantil, se analizó la tendencia de su tasa de mortalidad y proporción de defunciones respecto a otras causas de muerte durante el período 1960-2000. Resultados: La tasa de mortalidad por cáncer se redujo 41,4 por ciento) entre 1960 y 2000 (5,8 a 3,4/100 mil menores de 15 años), principalmente a consecuencia de importantes avances tecnológicos y organizacionales del sistema público. Por el contrario, la proporción de defunciones por cáncer aumentó 11 veces durante igual período (4 a 43/1 000 menores de 15 años), principalmente a consecuencia de una reducción de la mortalidad por enfermedades transmisibles y de la tasa de desnutrición infantil. Conclusión: El conocimiento de las características propias de la transición epidemiológica en la infancia en Chile implica importantes cambios y desafíos para el pediatra del siglo XXI, cuya práctica profesional será ejercida en un contexto diferente al de mediados del siglo XX.

La muerte y los niños / Children and death

The present article intends to create a more healthy relationship between death and the pediatric patient and, besides, deliver minimal tools to physicians, parents and children, in order to live this experience in a better way. To achieve this purpose, we based our study on bibliographical research and patients-psychologists-physicians experiences from pediatric oncology at our hospital. Piaget defines a clear progression in the child idea of death, ranging from intuition to abstraction. Although language will not be the same in every case, there is no minimum age for a child to deal in its own way with the death of the people who surround him. Not allowing children to suffer for their loved persons will not help them heal the wounds they experiment. An abnormal approach can determine mistaken, painful, and guilty conclusions that we must avoid

El tema de la muerte en los niños está pobremente integrado como una realidad en la práctica clínica. El presente artículo pretende lograr un acercamiento más sano a aquel escenario que reúne a la muerte y al paciente pediátrico, y entregar las mínimas herramientas a médicos, padres y a los mismos niños, para vivir estas experiencias de mejor manera. Para lograrlo, se basa en revisión bibliográfica, y experiencias de pacientes, médicos y psicólogos del departamento de oncología pediátrica del Hospital Clínico de la Universidad Católica. La idea de muerte en el niño sigue una cadena evolutiva, desde la intuición hasta la abstracción. A pesar de que el lenguaje no será el mismo en todos los casos, no hay edad ideal para permitir a un niño lidiar con la muerte de quienes lo rodean y la suya propia. Ciertos errores clásicos, algunos amparados en una buena intención, pueden generar efectos adversos. El no hacer parte a los niños del duelo de sus queridos, no les permite cerrar las heridas que experimentan en su manera. Duelos anormales pueden llevarlo a conclusiones erradas, dolorosas, y culpógenas, que se deberían evitar

[Hematopoietic stem cell transplantation for patients with Wiskott-Aldrich syndrome]. / Trasplante alogénico de precursores hematopoyéticos en pacientes con síndrome de Wiskott-Aldrich.

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is an X linked congenital disease that presents as eczema, thrombocytopenia and immune deficiency. The only curative procedure for this illness is hematopoietic stem cell transplant (HSCT), preferably from a healthy HLA identical sibling donor. Cord blood is becoming an excellent alternative as stem cell source from unrelated donors. AIM: To report our experience with HSCT in children with WAS. PATIENTS AND METHODS: Six boys with WAS diagnosed at 1 to 6 months of age were transplanted at our institution. All of them developed eczema and thrombocytopenia. Two had episodes of severe bleeding and three had repetitive infections (two with recurrent pulmonary infections and one a recurrent otitis). Three patients had a positive family history. Two received HSCT from sibling donors and four from unrelated cord blood donors at 7 months to 4 years of age. RESULTS: AH 6 patients had full hematopoietic engraftment after transplantation. Three had mild chronic graft-versus- host disease which responded to immune suppressive therapy. One patient died of cytomegalovirus related pneumonia 111 days after grafting. The other 5 patients are alive and healthy 11 to 104 months after transplantation. CONCLUSIONS: HSCT is an effective treatment for patients with WAS. The procedure should be done as soon as diagnosis is confirmed and before life threatening infections occur.

Trasplante alogénico de precursores hematopoyéticos en pacientes con síndrome de Wiskott-Aldrich / Hematopoietic stem cell transplantation for patients with Wiskott-Aldrich syndrome

Background: Wiskott-Aldrich syndrome (WAS) is an X linked congenital disease that presents as eczema, thrombocytopenia and immune deficiency. The only curative procedure for this illness is hematopoietic stem cell transplant (HSCT), preferably from a healthy HLA identical sibling donor. Cord blood is becoming an excellent alternative as stem cell source from unrelated donors. Aim: To report our experience with HSCT in children with WAS. Patients and methods: Six boys with WAS diagnosed at 1 to 6 months of age were transplanted at our institution. All of them developed eczema and thrombocytopenia. Two had episodes of severe bleeding and three had repetitive infections (two with recurrent pulmonary infections and one a recurrent otitis). Three patients had a positive family history. Two received HSCT from sibling donors and four from unrelated cord blood donors at 7 months to 4 years of age. Results: AH 6 patients had full hematopoietic engraftment after transplantation. Three had mild chronic graft-versus- host disease which responded to immune suppressive therapy. One patient died of cytomegalovirus related pneumonia 111 days after grafting. The other 5 patients are alive and healthy 11 to 104 months after transplantation. Conclusions: HSCT is an effective treatment for patients with WAS. The procedure should be done as soon as diagnosis is confirmed and before life threatening infections occur.