Hipogammaglobulinemia crónica postrasplante de precursores hematopoyéticos y su tratamiento con gammaglobulina subcutánea en pacientes pediátricos / Chronic hypogammaglobulinemia after allogeneic stem cell transplantation and their treatment with subcutanaeos inmunoglobulin in pediatric patients

Introducción: La hipogammaglobulinemia en los primeros meses postrasplante de progenitores hematopoyéticos (TPH) es común en pacientes pediátricos. Durante esta fase se debe administrar tratamiento sustitutivo con inmunoglobulina humana por vía parenteral para la prevención de infecciones. En algunos casos, esta hipogammaglobulinemia persiste en el tiempo, lo que obliga a prolongar el tratamiento cuando el paciente ya no suele ser portador de una vía central, por lo que son candidatos ideales para el tratamiento de reemplazo por vía subcutánea. Existe escasa bibliografía publicada que describa el uso de esta vía en pacientes pediátricos sometidos a TPH; sin embargo, está ampliamente descrita y con muy buenos resultados en el tratamiento de reemplazo en los niños con inmunodeficiencias primarias. Pacientes y métodos: Se realiza un estudio observacional, descriptivo y longitudinal de carácter retrospectivo. Durante los años 2008-2019 se evalúan a todos los pacientes pediátricos sometidos a TPH en nuestro centro que presentan una hipogammaglobulinemia crónica persistente (superior a un año). Se evalúa la fase de tratamiento con inmunoglobulina intravenosa (Privigen®) y los primeros 4 años de tratamiento con inmunoglobulina subcutánea (Hizentra®) mediante un cuestionario. Resultados: Durante los años 2008-2019 se han realizado en nuestro centro 175 trasplantes de precursores hematopoyéticos, de los cuáles 143 (82%) superaron los 3 meses postrasplante. De estos, 3 (2%) pacientes presentaron una hipogammaglobulinemia persistente. Los 3 comparten factores descritos en la bibliografía involucrados en la reconstitución inmune. Mediante el cuestionario se observa que el cambio de gammaglobulina intravenosa a subcutánea ha supuesto una gran mejoría en la calidad de vida de los pacientes. (AU)

Introduction: Hypogammaglobulinemia in the first months after allogeneic hematopoietic stem cell transplantation (HSCT) is common in pediatric patients. During this phase, replacement therapy with human immunoglobulin must be administered parenterally to prevent infections. In some cases, this hypogammaglobulinemia persists over time, which forces further treatment when the patient is usually no longer a carrier of a central line, making them ideal candidates for subcutaneous replacement therapy. There is little published literature describing the use of this method in pediatric patients undergoing HSCT, widely described in replacement treatment in children with primary immunodeficiencies with very good results. Patients and methods: An observational, descriptive, longitudinal and retrospective study is carried out. During the years 2008–2019, we evaluated all pediatric patients undergoing HSCT in our center with persistent chronic hypogammaglobulinemia (for over a year). The treatment phase with intravenous immunoglobulin (Privigen®) and the first four years of treatment with subcutaneous immunoglobulin (Hizentra®) are evaluated using a questionnaire. Results: During the years 2008-2019, 175 patients underwent HSCT, 143 (82%) of whom exceeded three months after transplantation. 3 (2%) of them had persistent hypogammaglobulinemia. All three share factors described in the literature involved in immune reconstitution. After analyzing the questionnaire, it is observed that switching from intravenous to subcutaneous gammaglobulin has involved a great improvement in their quality of life. (AU)

Chronic hypogammaglobulinemia after allogeneic stem cell transplantation and their treatment with subcutaneous immunoglobulin in pediatric patients.

INTRODUCTION: Hypogammaglobulinemia in the first months after allogeneic hematopoietic stem cell transplantation (HSCT) is common in paediatric patients. During this phase, replacement therapy with human immunoglobulin must be administered parenterally to prevent infections. In some cases, this hypogammaglobulinemia persists over time, which forces further treatment when the patient is usually no longer a carrier of a central line, making them ideal candidates for subcutaneous replacement therapy. There is little published literature describing the use of this method in paediatric patients undergoing HSCT, widely described in replacement treatment in children with primary immunodeficiencies with very good results. PATIENTS AND METHODS: An observational, descriptive, longitudinal and retrospective study is carried out. During the years 2008-2019, we evaluated all paediatric patients undergoing HSCT in our center with persistent chronic hypogammaglobulinemia (for over a year). The treatment phase with intravenous immunoglobulin (Privigen®) and the first four years of treatment with subcutaneous immunoglobulin (Hizentra®) are evaluated using a questionnaire. RESULTS: During the years 2008-2019, 175 patients underwent HSCT, 143 (82%) of whom exceeded three months after transplantation. Three (2%) of them had persistent hypogammaglobulinemia. All three share factors described in the literature involved in immune reconstitution. After analysing the questionnaire, it is observed that switching from intravenous to subcutaneous gammaglobulin has involved a great improvement in their quality of life. CONCLUSIONS: The origin of chronic hypogammaglobulinemia in our patients shows different factors and cannot be attributed to a single cause. Due to the limited number of patients no conclusions can be drawn at the population level. We have been able to observe that replacement treatment with Hizentra 20% has been as effective as the intravenous administration without evidence of an increase in bacterial infections. Furthermore, it has also led to an improvement in quality of life and increased comfort, as the patients themselves have stated.

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.

Nuevos productos de tabaco calentado / New heated tobacco products

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Fonaments bàsics de les vacunes contra la covid-19 / Fundamentos básicos de las vacunas contra la covid-19 / Basics of covid-19 vaccines

A començaments de l’any 2020 s’estén arreu del món unapandèmia provocada pel SARS-CoV-2, un virus respiratoriemergent procedent de la Xina i causant de la malaltiaconeguda com a covid-19. D’aleshores ençà, l’obtenciód’una vacuna ha esdevingut una cursa contrarellotge arreudel món. Equips d’investigació d’universitats i farmacèuti-ques assagen vacunes basades en diferents tecnologies,algunes ja utilitzades històricament i altres de nova gene-ració. Actualment n’hi ha centenars en diferents fasesd’investigació. Això, juntament amb el gran impacte quegenera la malaltia a la societat, fa que estiguem sotmesosa una allau constant d’informació sobre les vacunes contrala covid-19. Aquest treball de revisió pretén aclarir algunsconceptes que ens permetin ser crítics amb la informaciórebuda i, al mateix temps, aclarir termes i generalitats so-bre els diferents tipus de vacunes, la seva regularització,producció i efectes secundaris.(AU)

A comienzos de 2020 se extiende por el mundo una pandemiaprovocada por el virus SARS-CoV-2, un virus respiratorio emer-gente procedente de China y causante de la enfermedad conocidacomo covid-19. A partir de entonces, la obtención de una vacunase ha convertido en una carrera contrarreloj alrededor del mundo.Equipos de investigación de universidades y farmacéuticas ensa-yan vacunas basadas en diferentes tecnologías, algunas ya utiliza-das históricamente y otras de nueva generación. Actualmente haycentenares en diferentes fases de investigación. Esto, junto con elgran impacto que genera la enfermedad en la sociedad, hace queestemos sometidos a un alud constante de información sobre lasvacunas contra la covid-19. Este trabajo de revisión pretende acla-rar algunos conceptos que nos permitan una lectura crítica de lainformación y aclarar simultáneamente términos y generalidadessobre los diferentes tipos de vacunas, su regularización, produc-ción y efectos secundarios.(AU)

Early in 2020, a pandemic caused by a new respiratory virus na-med SARS-CoV-2 -causing the COVID-19 disease- extended aroundthe world from China. From that moment on a global race for thevaccine commenced at universities and the pharmaceutical indus-try using different methods and technologies, including both tradi-tional and new generation strategies. Nowadays, hundreds of themare under different phases of development. This, along with thestrong social impact of the disease, floods social media with infor-mation about the progresses of the different working groups. Thispaper sheds light on concepts that allow one to scrutinize suchinformation critically and clarify terms and generalities about diffe-rent vaccines, their regularization, production and side effects.(AU)

Cribado neonatal de la atrofia muscular espinal: el momento es ahora / Neonatal screening for spinal muscular atrophy: the time is now

La atrofia muscular espinal (AME) es la enfermedad neurodegenerativa más común en la infancia. La aprobación reciente de nuevas terapias efectivas ha justificado la implementación desde hace dos años de un programa piloto de cribado neonatal en la Federación Valonia Bruselas (FWB).Se describe el procedimiento de cribado neonatal utilizado actualmente para detección para la AME en recién nacidos en el sur de Bélgica. El coste del cribado es de 3,10 € por niño. Si se mantiene esta configuración, representa un coste anual de 181 000 € (por aproximadamente 60 000 nacimientos anuales en FWB).En el contexto de contar con un método de cribado neonatal fiable, con un coste económico moderado y la posibilidad de un tratamiento inmediato viable, los autores recomiendan la inclusión y financiación del despistaje de la atrofia muscular espinal en la lista de enfermedades incluidas oficialmente en el marco del cribado neonatal. (AU)

Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The recent approval of new effective therapies has justified the implementation of a pilot neonatal screening program in the Federation Wallonia Brussels (FWB).The neonatal screening procedure currently used for screening for SMA in newborns in southern Belgium is described. The cost of screening is € 3.10 per child. If this configuration is maintained, it represents an annual cost of € 181,000 (for approximately 60,000 annual births in FWB).In the context of having a reliable neonatal screening method, with a moderate economic cost and the possibility of a viable immediate treatment, the authors recommend the inclusion and financing of the screening for the spinal muscular atrophy in the list of diseases officially included in the framework of the neonatal screening program. (AU)

Inducción de la lactancia sin gestación / Breastfeeding without having been pregnant

Tradicionalmente resulta difícil desligar la lactancia materna del embarazo y el parto. Sin embargo, la opción de amamantar a un bebé también es factible para las mujeres que se han convertido en madres a través de procesos de gestación subrogada o adopción. Presentamos el caso de una mujer diagnosticada con síndrome de Rokitansky que amamantó exitosamente a su bebé siguiendo los protocolos del doctor Newman. Existe poca información sobre la inducción de la lactancia materna. Los profesionales que ejercen la Pediatría deberían conocer las posibilidades de la inducción de la lactancia materna

It has traditionally been difficult to separate breastfeeding from pregnancy and childbirth. However, the option of breastfeeding their babies is also feasible for women who have become mothers through gestational surrogacy processes or adoption. We present the case of a woman diagnosed with Rokitansky syndrome who successfully breastfed her baby following Doctor Newman's protocols. There is little information on breastfeeding induction. Pediatricians should be knowledgeable about the possibilities of breastfeeding induction

Trasplante de progenitores hematopoyéticos con intensidad reducida en enfermedades genéticas. Experiencia del grupo GETMON (Grupo Español de Trasplante de Médula Ósea en Niños) / Reduced-intensity conditioning haematopoietic stem cell transplantation in genetic diseases: Experience of the Spanish Working Group for Bone Marrow Transplantation in Children

INTRODUCCIÓN: El trasplante de progenitores hematopoyéticos (TPH) consiste en implantar elementos celulares capaces de generar un sistema hematopoyético nuevo y sano. El régimen de intensidad reducida (RIR) consiste en un tratamiento predominantemente inmunosupresor, para facilitar un implante progresivo con menor morbilidad. Este tipo de acondicionamiento puede también provocar mielosupresión, aunque potencialmente reversible en el tiempo. El acondicionamiento RIR permite aplicar TPH a pacientes con enfermedad genética en los que no es deseable añadir comorbilidad por las altas dosis de quimioterapia que conlleva el régimen mieloablativo convencional. PACIENTES Y MÉTODOS: Se analiza la evolución de 68 pacientes pediátricos con enfermedades genéticas que entre los años 2005-2013 se han sometido a un TPH con RIR en las Unidades pediátricas de Trasplante Hematopoyético de los hospitales españoles integrantes del Grupo Español para Trasplante de Médula Ósea en niños. Se trata de un estudio multicéntrico que incluye a 68 pacientes, de los cuales 43 presentan inmunodeficiencia primaria, 21 presentan hemopatía congénita y 4 están afectados de metabolopatía. RESULTADOS: Cincuenta de los 68 pacientes se encuentran vivos (73,5%). La supervivencia global (SG) a 9 años es de 0,74. Veintitrés (33,8%) han presentado en el transcurso del TPH algún evento. Supervivencia libre de evento de 0,66. La SG en los pacientes con hemopatía es de 0,81; en las inmunodeficiencias primarias es de 0,70 y en las metabolopatías es de 0,4. No se observa diferencia significativa entre los 3 grupos de enfermedades. Respecto a la fuente de progenitores hematopoyéticos, la SG en los pacientes trasplantados con sangre periférica es de 0,74; con médula ósea es de 0,70 y con la sangre de cordón umbilical es de 0,70. No se observa tampoco diferencia estadística significativa. CONCLUSIONES: En nuestro trabajo, de ámbito nacional, hemos evidenciado unos resultados favorables en TPH con régimen de intensidad reducida en las enfermedades genéticas. Cabe destacar que las metabolopatías requieren una consideración individualizada para sopesar en cada paciente los riesgos y beneficios que comporta el RIR

INTRODUCTION: Haematopoietic stem cell transplantation (HSCT) involves implanting cellular elements capable of generating a new and healthy haematopoietic system. Reduced intensity conditioning (RIC) consists of an immunosuppressive treatment to facilitate a progressive implant with lower morbidity. This type of conditioning can also lead to myelosuppression, which is potentially reversible over time. Reduced intensity conditioning enables HSCT to be performed on patients with genetic diseases for whom added comorbidity is undesirable due to the high doses of chemotherapy that accompanies conventional myeloablative regimens. PATIENTS AND METHODS: An analysis was performed on the outcomes of 68 paediatric patients with genetic diseases who underwent HSCT with RIC between 2005 and 2013 in the of Paediatric Haematopoietic Stem Cell Transplantation Units that are part of the Spanish Working Group for Bone Marrow Transplantation in Children. A multicentre study was conducted including 68 patients, of whom 43 had Primary Immunodeficiency, 21 with congenital haematological diseases, and 4 with metabolic diseases. RESULTS: Fifty (73.5%) of the 68 patients were still alive. The Overall Survival (OS) at nine years was 0.74. Twenty-three (33.8%) had some event during the course of the HSCT, with an event-free survival rate of 0.66. The OS in patients with haematological diseases was 0.81, being 0.7 in primary immunodeficiencies, and 0.4 in metabolic diseases. No significant difference was observed between the 3 groups of diseases. As regards the source of haematopoietic progenitors, there was an OS rate of 0.74 in patients transplanted with peripheral blood, 0.70 with bone marrow, and 0.70 and with cord blood, with no statistically significant differences. CONCLUSIONS: Favourable results have been obtained in HSCT with reduced intensity conditioning in genetic diseases. It should be noted that the risks and benefits of the RIC in patients with metabolic diseases need to be assessed on an individual basis

[Reduced-intensity conditioning haematopoietic stem cell transplantation in genetic diseases: Experience of the Spanish Working Group for Bone Marrow Transplantation in Children]. / Trasplante de progenitores hematopoyéticos con intensidad reducida en enfermedades genéticas. Experiencia del grupo GETMON (Grupo Español de Trasplante de Médula Ósea en Niños).

INTRODUCTION: Haematopoietic stem cell transplantation (HSCT) involves implanting cellular elements capable of generating a new and healthy haematopoietic system. Reduced intensity conditioning (RIC) consists of an immunosuppressive treatment to facilitate a progressive implant with lower morbidity. This type of conditioning can also lead to myelosuppression, which is potentially reversible over time. Reduced intensity conditioning enables HSCT to be performed on patients with genetic diseases for whom added comorbidity is undesirable due to the high doses of chemotherapy that accompanies conventional myeloablative regimens. PATIENTS AND METHODS: An analysis was performed on the outcomes of 68 paediatric patients with genetic diseases who underwent HSCT with RIC between 2005 and 2013 in the of Paediatric Haematopoietic Stem Cell Transplantation Units that are part of the Spanish Working Group for Bone Marrow Transplantation in Children. A multicentre study was conducted including 68 patients, of whom 43 had Primary Immunodeficiency, 21 with congenital haematological diseases, and 4 with metabolic diseases. RESULTS: Fifty (73.5%) of the 68 patients were still alive. The Overall Survival (OS) at nine years was 0.74. Twenty-three (33.8%) had some event during the course of the HSCT, with an event-free survival rate of 0.66. The OS in patients with haematological diseases was 0.81, being 0.7 in primary immunodeficiencies, and 0.4 in metabolic diseases. No significant difference was observed between the 3 groups of diseases. As regards the source of haematopoietic progenitors, there was an OS rate of 0.74 in patients transplanted with peripheral blood, 0.70 with bone marrow, and 0.70 and with cord blood, with no statistically significant differences. CONCLUSIONS: Favourable results have been obtained in HSCT with reduced intensity conditioning in genetic diseases. It should be noted that the risks and benefits of the RIC in patients with metabolic diseases need to be assessed on an individual basis.