Ototoxic and nephrotoxic drugs in neonatal intensive care units: results of a Spanish and Italian survey.

Neonates face heightened susceptibility to drug toxicity, often exposed to off-label medications with dosages extrapolated from adult or pediatric studies. Premature infants in Neonatal Intensive Care Units (NICUs) are particularly at risk due to underdeveloped pharmacokinetics and exposure to multiple drugs. The study aimed to survey commonly used medications with a higher risk of ototoxicity and nephrotoxicity in Spanish and Italian neonatal units. A prospective cross-sectional study was conducted in Italian and Spanish neonatal units using a web-based survey with 43 questions. A modified Delphi method involved experts refining the survey through online consensus. Ethical approval was obtained, and responses were collected from January to July 2023. The survey covered various aspects, including drug-related ototoxic and nephrotoxic management, hearing screening, and therapeutic drug monitoring. Responses from 131 participants (35.9% from Spain and 64.1% from Italy) revealed awareness of drug toxicity risks. Varied practices were observed in hearing screening protocols, and a high prevalence of ototoxic and nephrotoxic drug use, including aminoglycosides (100%), vancomycin (70.2%), loop diuretics (63.4%), and ibuprofen (62.6%). Discrepancies existed in guideline availability and adherence, with differences between Italy and Spain in therapeutic drug monitoring practices. CONCLUSIONS: The study underscores the need for clinical guidelines and uniform practices in managing ototoxic and nephrotoxic drugs in neonatal units. Awareness is high, but inconsistencies in practices indicate a necessity for standardization, including the implementation of therapeutic drug monitoring and the involvement of clinical pharmacologists. Addressing these issues is crucial for optimizing neonatal care in Southern Europe. WHAT IS KNOWN: • Neonates in intensive care face a high risk of nephrotoxicity and ototoxicity from drugs like aminoglycosides, vancomycin, loop diuretics, and ibuprofen. • Therapeutic drug monitoring is key for managing these risks, optimizing dosing for efficacy and minimizing side effects. WHAT IS NEW: • NICUs in Spain and Italy show high drug toxicity awareness but differ in ototoxic/nephrotoxic drug management. • Urgent need for standard guidelines and practices to address nephrotoxic risks from aminoglycosides, vancomycin, loop diuretics, and ibuprofen.

What Is the Opinion of the Health Care Personnel Regarding the Use of Different Assistive Tools to Improve the Quality of Neonatal Resuscitation?

OBJECTIVE: It is important to determine whether the use of different quality improvement tools in neonatal resuscitation is well-received by health care teams and improves coordination and perceived quality of the stabilization of the newborn at birth. This study aimed to explore the satisfaction of personnel involved in resuscitation for infants under 32 weeks of gestational age (<32 wGA) at birth with the use of an assistance toolkit: Random Real-time Safety Audits (RRSA) of neonatal stabilization stations, the use of pre-resuscitation checklists, and the implementation of briefings and debriefings. STUDY DESIGN: A quasi-experimental, prospective, multicenter intervention study was conducted in five level III-A neonatal intensive care units in Madrid (Spain). The intervention involved conducting weekly RRSA of neonatal resuscitation stations and the systematic use of checklists, briefings, and debriefings during stabilization at birth for infants <32 wGA. The satisfaction with their use was analyzed through surveys conducted with the personnel responsible for resuscitating these newborns. These surveys were conducted both before and after the intervention phase (each lasting 1 year) and used a Likert scale response model to assess various aspects of the utility of the introduced assistance tools, team coordination, and perceived quality of the resuscitation. RESULTS: Comparison of data from 200 preintervention surveys and 155 postintervention surveys revealed statistically significant differences (p < 0.001) between the two phases. The postintervention phase scored higher in all aspects related to the effective utilization of these tools. Improvements were observed in team coordination and the perceived quality of neonatal resuscitation. These improved scores were consistent across personnel roles and years of experience. CONCLUSION: Personnel attending to infants <32 wGA in the delivery room are satisfied with the application of RRSA, checklists, briefings, and debriefings in the neonatal resuscitation and perceive a higher level of quality in the stabilization of these newborns following the introduction of these tools. KEY POINTS: · RRSA, checklists, briefings, and debriefings improve the quality of neonatal resuscitation at birth.. · These tools, when used together, are well-received and enhance perceived resuscitation quality.. · Perception of utility and quality improvement is consistent across roles and experience..

Real-Time Safety Audits of Neonatal Delivery Room Resuscitation Areas: Are We Sufficiently Prepared?

OBJECTIVE: This study aimed to use real-time safety audits to establish whether preparation of the equipment required for the stabilization and resuscitation of newborns in the delivery room areas is adequate. STUDY DESIGN: This was a descriptive, multicenter study performed at five-level III-A neonatal units in Madrid, Spain. For 1 year, one researcher from each center performed random real-time safety audits (RRTSAs), on different days and during different shifts, of at least three neonatal stabilization areas, either in the delivery room or in the operating room used for caesarean sections. Three factors in each area were reviewed: the set-up of the radiant warmer, the materials, and medication available. The global audit was considered without defect when no errors were detected in any of the audited factors. Possible differences in the results were analyzed as a function of the study month, day of the week, or shift during which the audit had been performed. RESULTS: A total of 852 audits were performed. No defects were detected in any of the three factors analyzed in the 534 (62.7%, 95% confidence interval [CI]: 59.3-65.9) cases. Slight defects were detected in 98 (11.5%, 95% CI: 9.4-13.8) cases and serious defects capable of producing adverse events in the newborn during resuscitation were found in 220 (25.8%, 95% CI: 22.9-28.9) cases. No statistically significant differences in the results were found according to the day of the week or time during which the audits were performed. However, the percentage of RRTSAs without defect increased as the study period progressed (first quarter 38.1% vs. the last quarter 84.2%; p < 0.001). CONCLUSION: The percentage of adequately prepared resuscitation areas was low. RRTSAs made it possible to detect errors in the correct availability of the neonatal stabilization areas and improved their preparation by preventing errors from being perpetuated over time. KEY POINTS: · RRTSAs are a tool for improving clinical safety.. · The use of RRTSAs in perinatal care is very uncommon.. · RRTSAs improve the preparation of newborn CPR areas..

Combined application of various quality assessment tools in neonatal resuscitation.

INTRODUCTION: In neonatal resuscitation, it is important to know whether the use of a combination of quality assessment tools has an impact on the preparation of the resuscitation bed and equipment, the correct performance of the procedure and the clinical outcomes of the most vulnerable neonates. MATERIAL AND METHODS: Multicentre, prospective, quasi-experimental interventional study in five level III-A neonatal units. In the pre- and post-intervention phases, both of which lasted 1 year, there were weekly random audits of the stabilization beds in the delivery room to assess their preparation. In the post-intervention phase, checklists, briefings and debriefings were used in the resuscitation of neonates delivered before 32 weeks. We compared the performance of the procedure and early post-resuscitation outcomes in the 2 periods. RESULTS: Total of 852 audits were carried out in the pre-intervention period and 877 in the post-intervention period. There was a greater percentage of audits that did not identify defects in the second phase (63% vs 81%; P < .001). The first phase included 75 resuscitations and the second 48, out of which all the quality assessment tools had been used in 36 (75%). We did not find any differences in the main clinical variables during stabilization, although we observed a trend towards fewer technical problems during the procedure in the second period. CONCLUSIONS: The use of random audits, checklists, briefings and debriefings in the resuscitation of newborns delivered before 32 weeks is feasible but has no impact on short-term clinical outcomes or correct performance of the procedure. Audits of neonatal resuscitation beds significantly improved their preparation.

PFAPA syndrome in siblings. Is there a genetic background?

UNLABELLED: "PFAPA syndrome" is an autoinflammatory entity composed of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. There have been many reports of children with the disease, but only occasionally have been described in siblings, and no specific genetic mutation has been determined yet. Corticosteroids are the mainstay in the treatment of the acute attacks. The role of surgery in long-term follow-up (tonsillectomy with or without adenoidectomy) is controversial. We report two brothers affected with the syndrome, in whom corticosteroids as the only treatment led to an improvement. A genetic work-up was performed, making very unlikely other possible syndromes of recurrent fever. CONCLUSION: PFAPA syndrome is the most common recurrent periodic fever disorder described in childhood. Its genetic background has not been elucidated yet. Our contribution with two siblings affected with PFAPA syndrome further support the genetic basis for the entity.

[Saethre-Chotzen syndrome: a case report]. / Síndrome de Saethre-Chotzen: a propósito de un caso.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

A survey of procedural pain assessment and non-pharmacologic analgesic interventions in neonates in Spanish public maternity units.

OBJECTIVE: To qualify and quantify clinical practices related to pain assessment and non-pharmacologic analgesia (NPA) in newborns in Spanish public maternity hospitals STUDY DESIGN: We surveyed providers online regarding their use of pain assessment scales, NPA interventions in neonates undergoing procedures, as well parents' presence or absence during interventions. RESULTS: The number of painful procedures and the subjective grading of pain from the responding physicians were similar in all hospitals. Only 12.5% of hospitals used pain scales. No NPA was employed in 37.7% of procedures, with less NPA used in the lower complexity hospitals for venous extraction (p < 0.001) and gastric lavage (p = 0.001). Respondents reported parents' absence during 56.1% of procedures. CONCLUSIONS: Available pain assessment scales and NPA interventions to mitigate pain are being underused. The presence of the parents during painful interventions is low despite the evidence that this may help to reduce newborns' perception of pain.

[Enoxaparin overdose in a newborn]. / Sobredosis accidental de enoxaparina en un recién nacido.

Enoxaparin is a low molecular weight heparin used in the neonatal period. It requires less monitoring than standard or unfractionated heparin, although current knowledge about its dose and therapeutic levels in neonates is scarce. In addition, there is very limited information about the management of overdose in this age group. We present the first case published in Spanish of a neonate who accidentally received a dose of enoxaparin ten times higher than the therapeutic one and an isolated dose of protamine to reverse its effect.

La enoxaparina es una heparina de bajo peso molecular utilizada en el período neonatal. Requiere menor monitoreo que la heparina estándar o no fraccionada, si bien es escaso el conocimiento actual acerca de su dosis y de los niveles terapéuticos en los neonatos. Además, existe una información muy limitada respecto del manejo de su sobredosificación en este grupo de edad. Se presenta el primer caso publicado en castellano de un neonato que recibió una dosis de enoxaparina diez veces superior a la terapéutica de forma accidental y en el que se administró una dosis aislada de protamina para revertir su efecto.

Aplicación conjunta de diversas herramientas de calidad en la reanimación neonatal / Combined application of various quality assessment tools in neonatal resuscitation

Introducción: Es importante conocer si en la reanimación neonatal el uso de diversas herramientas de calidad tiene impacto en la preparación del puesto de estabilización, correcto desarrollo del procedimiento y evolución clínica de aquellos neonatos más vulnerables. Material y métodos: Estudio de intervención cuasiexperimental, prospectivo y multicéntrico en 5 unidades neonatales iii-A. En las fases pre y postintervención, ambas de un año de duración, se realizaron auditorías aleatorias semanales de los puestos de estabilización en el paritorio para comprobar su preparación. En la fase postintervención se usaron checklists, briefings y debriefings en las reanimaciones de los neonatos menores de 32 semanas. Se compararon el desarrollo del procedimiento y la evolución inicial posreanimación entre ambos periodos. Resultados: Se realizaron 852 auditorías en el periodo preintervención y 877 en el postintervención. El porcentaje de auditorías sin defecto fue superior en la segunda fase (63% vs. 81% p<0,001). Se incluyeron 75 reanimaciones en la fase inicial y 48 en la segunda, de las cuales en 36 (75%) se habían utilizado todas las herramientas de calidad. No existieron diferencias en las principales variables clínicas durante la estabilización, aunque se objetivó una tendencia a menores problemas técnicos durante el procedimiento en el segundo periodo. Conclusiones: La utilización de auditorías aleatorias, checklists, briefings y debriefings en la reanimación de los menores de 32 semanas es factible, pero no tiene impacto en los resultados clínicos a corto plazo ni en la correcta ejecución del procedimiento. Las auditorías de los puestos de reanimación neonatal mejoran significativamente su preparación. (AU)

Introduction: In neonatal resuscitation, it is important to know whether the use of a combination of quality assessment tools has an impact on the preparation of the resuscitation bed and equipment, the correct performance of the procedure and the clinical outcomes of the most vulnerable neonates. Material and methods: Multicentre, prospective, quasi-experimental interventional study in five level III-A neonatal units. In the pre- and post-intervention phases, both of which lasted 1 year, there were weekly random audits of the stabilization beds in the delivery room to assess their preparation. In the post-intervention phase, checklists, briefings and debriefings were used in the resuscitation of neonates delivered before 32 weeks. We compared the performance of the procedure and early post-resuscitation outcomes in the 2 periods. Results: 852 audits were carried out in the pre-intervention period and 877 in the post-intervention period. There was a greater percentage of audits that did not identify defects in the second phase (63% vs 81%; P<.001). The first phase included 75 resuscitations and the second 48, out of which all the quality assessment tools had been used in 36 (75%). We did not find any differences in the main clinical variables during stabilization, although we observed a trend towards fewer technical problems during the procedure in the second period. Conclusions: The use of random audits, checklists, briefings and debriefings in the resuscitation of newborns delivered before 32 weeks is feasible but has no impact on short-term clinical outcomes or correct performance of the procedure. Audits of neonatal resuscitation beds significantly improved their preparation. (AU)

Síndrome de Saethre-Chotzen: a propósito de un caso / Saethre-Chotzen syndrome: a case report

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

Tos, hipoxemia y dificultad respiratoria en el periodo neonatal. No siempre es lo que parece / Cough, respiratory distress and hypoxemia in neonatal period. It is not always what it seems

La dificultad respiratoria en el periodo neonatal tardío constituye un reto pediátrico no solo diagnóstico, sino de tratamiento, ya que a las múltiples causas del cuadro se deben sumar los factores inherentes a la propia vulnerabilidad del niño. En la práctica habitual, la principal causa de estos cuadros son las infecciones (fundamentalmente víricas), aunque se deben tener en cuenta otras etiologías como cardiológicas, digestivas, metabólicas o anatómicas. Presentamos un caso clínico de tos, dificultad respiratoria e hipoxemia en un neonato de 17 días de vida en el que los datos de la anamnesis, la exploración y el cuadro clínico condujeron a la realización de pruebas complementarias específicas que llevaron al diagnóstico de neumonía por Chlamydia. Realizaremos asimismo una revisión sobre el estado actual de la cuestión basándonos en el cuadro clínico que presentaba el recién nacido

Respiratory distress in the late neonatal period is a challenge for the pediatrician, not only in diagnosis but also in treatment, as the inherent factors of the child's vulnerability must be added to the multiple possible etiologies. In practice, viral infections are responsible for a high percentage of these conditions. However, other etiologies such as cardiologic, digestive, metabolic or anatomical causes must be taken into account. We introduce a case report of a 17-day-old neonate with cough, respiratory distress and hypoxemia. The anamnesis, physical examination and clinical findings led to specific complementary tests. All these conduced to the diagnosis of pneumonia caused by Chlamydia. We also perform a review of the current state of the knowledge, based on the clinical condition presented on the neonate

Sobredosis accidental de enoxaparina en un recién nacido / Enoxaparin overdose in a newborn

La enoxaparina es una heparina de bajo peso molecular utilizada en el período neonatal. Requiere menor monitoreo que la heparina estándar o no fraccionada, si bien es escaso el conocimiento actual acerca de su dosis y de los niveles terapéuticos en los neonatos. Además, existe una información muy limitada respecto del manejo de su sobredosificación en este grupo de edad. Se presenta el primer caso publicado en castellano de un neonato que recibió una dosis de enoxaparina diez veces superior a la terapéutica de forma accidental y en el que se administró una dosis aislada de protamina para revertir su efecto.

Enoxaparin is a low molecular weight heparin used in the neonatal period. It requires less monitoring than standard or unfractionated heparin, although current knowledge about its dose and therapeutic levels in neonates is scarce. In addition, there is very limited information about the management of overdose in this age group. We present the first case published in Spanish of a neonate who accidentally received a dose of enoxaparin ten times higher than the therapeutic one and an isolated dose of protamine to reverse its effect.

Síndrome de Muenke / Muenke syndrome

No disponible

[PFAPA syndrome: study of 10 cases]. / Síndrome PFAPA: Estudio de 10 casos.

BACKGROUND AND OBJECTIVES: «PFAPA syndrome¼ is an autoinflammatory entity consisting of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Its etiology is unknown although a dysregulation in the control of the autoinflammatory response seems to play a role. Although a genetic origin is suspected, no specific mutation has been determined yet. Corticosteroids are the mainstay of the treatment during the acute attacks. However, in long-term follow-up the role of tonsillectomy is controversial. PATIENTS AND METHODS: A retrospective study of the pediatric cases diagnosed with the PFAPA syndrome was performed in our center during the last 4 years. RESULTS: Ten patients were diagnosed with the syndrome who received corticosteroids as the only treatment with improvement and favourable prognosis. CONCLUSION: PFAPA syndrome is the most common periodic fever disorder described in childhood whose genetic background has not been yet clarified. Our contribution with 10 patients further supports the common existence of this entity and the need to keep it in mind when having recurrent fevers.

Sepsis neonatal tardía por Estreptococo del grupo B. Transmisión a través de lactancia materna

Objetivo: El estreptococo del grupo B (SGB) o Streptococcus agalactiae es una causa importante de infección bacteriana en el recién nacido, con dos formas clínicas de afectación precoz y tardía. De esta última , se conocen diferentes mecanismos de transmisión horizontal, nosocomial o adquirida en la comunidad. Existen pocos casos descritos en la literatura en los que la ingestión de la leche materna colonizada por SGB fuera causa de infección tardía en el recién nacido. En el presente artículo describimos un caso de sepsis-meningitis tardía por SGB transmitido por leche materna en una madre sin mastitis. Revisaremos además la patogénica de esta enfermedad y la controversia existente acerca del tratamiento materno o la retirada de la lactancia materna en estos casos.

Objective: Group B streptococcus (GBS) or Streptococcus agalactiae is a major cause of bacterial infection in the newborn, with two clinical forms: early and late-onset infection. Of the latter we know different transmission mechanisms: horizontal, nosocomial or community acquired. There are few cases reported in the literature in which the ingestion of breast milk colonized by GBS was the cause of late infection in the newborn. In this paper, we report a case of late-onset sepsis and meningitis due to GBS transmitted through breast milk in a mother without mastitis. We will also review the pathogenesis of this disease and the controversy about treatment or withdrawal of maternal breastfeeding in these cases.

Malformación adenomatoidea quística congénita / Congenital cystic adenomatous malformation

Introduction: Congenital Cystic Adenomatous Malformation (CCAM) is an infrequent entity due to an alteration in alveolar-pulmonary development. Material and Methods: A descriptive, retrospective study of newborns presenting CCAM in a tertiary care hospital in Madrid, Spain. Results: Seven patients were found. All were full term, normal weight births. Two patients showed respiratory distress at birth. Two chest x-rays were normal. CT scans showed three clear CCAM lesions, four suggestive of hybrid lesions. All were referred to medical centers with pediatric surgery for followup. Discussion: At birth, this pathology may be asymptomatic and appear as a chest x-ray finding. Long term management is complicated by infection and malignization. Conservative treatment of asymptomatic patients includes regular follow up of lesions. Surgical treatment is reserved for symptomatic or complicated patients. Conclusions: Prenatal suspicion of CCAM is important since clinical exam and radiology may be normal in neonatal period. Chest CT scans are important in confirming diagnosis and determining future surgery. More studies are necessary for the proper diagnosis and management of this disorder.

Introducción: La malformación adenomatoidea quística (MAQ) es una entidad congénita poco frecuente debida a una alteración en el desarrollo alveolar pulmonar. Pacientes y Método: Se realizó un estudio descriptivo y retrospectivo de los recién nacidos con el diagnóstico prenatal de MAQ durante 6 años en un hospital terciario de Madrid (España). Resultados: Se encontraron un total de siete pacientes. Todos fueron recién nacidos a término de peso adecuado. Dos pacientes presentaron distress respiratorio al nacimiento. Dos radiografías de tórax fueron normales. En la tomografía axial (TAC), tres lesiones fueron MAQ y cuatro fueron su-gerentes de lesión híbrida. Todos se derivaron a centro con cirugía pediátrica para seguimiento. Discusión: Al nacimiento, esta patología puede permanecer asintomática y ser un hallazgo casual en una radiografía torácica. A largo plazo el riesgo de infección y malignización complican el manejo. El tratamiento conservador, que se dirige a pacientes asintomáticos, obliga a realizar controles seriados de las lesiones. El tratamiento quirúrgico se reserva para los pacientes con sintomatología o complicaciones postnatales. Conclusiones: El diagnóstico de sospecha prenatal de MAQ es fundamental dado que la clínica y radiología pueden ser normales en el período neonatal. Se debe realizar TAC torácico para confirmar la lesión y valorar futura cirugía. Se necesitan más estudios sobre el correcto diagnóstico y manejo de esta patología.

Síndrome PFAPA: Estudio de 10 casos / PFAPA syndrome: Study of 10 cases

Fundamento y objetivo: El síndrome de PFAPA es una entidad autoinflamatoria que incluye fiebre periódica, estomatitis aftosa, faringitis y adenitis cervical. Su etiología es desconocida, pero una desregulación en el control de la respuesta inflamatoria parece tener un papel importante en la fisiopatología. Aunque se sospecha la existencia de un origen genético, no se ha determinado ninguna mutación hasta la fecha. Los corticoides son la base del tratamiento agudo, mientras que el papel de la amigdalectomía en el seguimiento a largo plazo es controvertido. Pacientes y método:Se realizó un estudio retrospectivo de los casos pediátricos diagnosticados de síndrome de PFAPA en nuestro centro en los últimos 4 años. Resultados: Se encontró un total de 10 pacientes diagnosticados de este síndrome que recibieron corticoides como único tratamiento eficaz con adecuada respuesta y pronóstico favorable. Conclusiones: El síndrome PFAPA constituye el tipo de fiebre periódica más frecuente en la edad pediátrica, cuyo origen genético no ha sido elucidado todavía. Nuestra contribución con 10 pacientes afectos resalta la frecuencia común de esta entidad y la necesidad de tenerla presente ante toda fiebre recurrente (AU)

Background and objectives: «PFAPA syndrome» is an autoinflammatory entity consisting of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Its etiology is unknown although a dysregulation in the control of the autoinflammatory response seems to play a role. Although a genetic origin is suspected, no specific mutation has been determined yet. Corticosteroids are the mainstay of the treatment during the acute attacks. However, in long-term follow-up the role of tonsillectomy is controversial. Patients and methods: A retrospective study of the pediatric cases diagnosed with the PFAPA syndrome was performed in our center during the last 4 years.Results: Ten patients were diagnosed with the syndrome who received corticosteroids as the only treatment with improvement and favourable prognosis. Conclusion: PFAPA syndrome is the most common periodic fever disorder described in childhood whose genetic background has not been yet clarified. Our contribution with 10 patients further supports the common existence of this entity and the need to keep it in mind when having recurrent fevers (AU)