Trasplante de médula ósea haploidéntico en un paciente pediátrico con síndrome de Wiskott-Aldrich. A propósito de un caso / Haploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report

El síndrome de Wiskott-Aldrich es un error innato de la inmunidad de herencia ligada al cromosoma X, producido por variantes en el gen que codifica la proteína del síndrome de Wiskott-Aldrich (WASp). Reportamos el caso clínico de un paciente de 18 meses con diagnóstico de Wiskott-Aldrich que no presentaba donante antígeno leucocitario humano (HLA) idéntico y recibió un trasplante de células progenitoras hematopoyéticas (TCPH) con donante familiar haploidéntico. La profilaxis para enfermedad de injerto contra huésped incluyó ciclofosfamida (PT-Cy). El quimerismo del día +30 fue 100 % del donante y la evaluación postrasplante de la expresión de la proteína WAS fue normal. Actualmente, a 32 meses del trasplante, presenta reconstitución hematológica e inmunológica y quimerismo completo sin evidencia de enfermedad injerto contra huésped. El TCPH haploidéntico con PT-Cy se mostró factible y seguro en este caso de síndrome de WiskottAldrich en el que no se disponía de un donante HLA idéntico.

Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). Here, we report the clinical case of an 18-month-old boy diagnosed with Wiskott-Aldrich syndrome, who did not have an HLA-matched related or unrelated donor and was treated successfully with a hematopoietic stem cell transplant (HSCT) from a haploidentical family donor. Graft-versus-host disease (GvHD) prophylaxis included post-transplant cyclophosphamide (PT-Cy). At day +30, the peripheral blood-nucleated cell chimerism was 100% and the WAS protein had a normal expression. Currently, at month 32 post-transplant, the patient has hematological and immune reconstitution and complete donor chimerism without evidence of GvHD. HSCT with PT-Cy was a feasible and safe option for this patient with WAS, in which an HLA matched donor was not available.

Haploidentical bone marrow transplantation in a pediatric patient with Wiskott-Aldrich syndrome. A case report. / Trasplante de médula ósea haploidéntico en un paciente pediátrico con síndrome de Wiskott-Aldrich. A propósito de un caso.

Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). Here, we report the clinical case of an 18-month-old boy diagnosed with Wiskott-Aldrich syndrome, who did not have an HLA-matched related or unrelated donor and was treated successfully with a hematopoietic stem cell transplant (HSCT) from a haploidentical family donor. Graft-versus-host disease (GvHD) prophylaxis included post-transplant cyclophosphamide (PT-Cy). At day +30, the peripheral blood-nucleated cell chimerism was 100% and the WAS protein had a normal expression. Currently, at month 32 post-transplant, the patient has hematological and immune reconstitution and complete donor chimerism without evidence of GvHD. HSCT with PT-Cy was a feasible and safe option for this patient with WAS, in which an HLA matched donor was not available.

El síndrome de Wiskott-Aldrich es un error innato de la inmunidad de herencia ligada al cromosoma X, producido por variantes en el gen que codifica la proteína del síndrome de Wiskott-Aldrich (WASp). Reportamos el caso clínico de un paciente de 18 meses con diagnóstico de Wiskott-Aldrich que no presentaba donante antígeno leucocitario humano (HLA) idéntico y recibió un trasplante de células progenitoras hematopoyéticas (TCPH) con donante familiar haploidéntico. La profilaxis para enfermedad de injerto contra huésped incluyó ciclofosfamida (PT-Cy). El quimerismo del día +30 fue 100 % del donante y la evaluación postrasplante de la expresión de la proteína WAS fue normal. Actualmente, a 32 meses del trasplante, presenta reconstitución hematológica e inmunológica y quimerismo completo sin evidencia de enfermedad injerto contra huésped. El TCPH haploidéntico con PT-Cy se mostró factible y seguro en este caso de síndrome de WiskottAldrich en el que no se disponía de un donante HLA idéntico.

Histoplasmosis diseminada en una paciente pediátrica inmunocompetente / Disseminated histoplasmosis in an immunocompetent pediatric patient

La histoplasmosis es una micosis endémica producida por el hongo Histoplasma capsulatum. La forma diseminada en pediatría conlleva alta morbimortalidad. Reportamos el caso de una niña inmunocompetente con diagnóstico de histoplasmosis diseminada. Paciente de 3 años de edad con cuadro clínico de síndrome febril prolongado acompañado de hepatoesplenomegalia confirmada por ecografía. Laboratorio con anemia normocítica, normocrómica y leucopenia. Se arribó al diagnóstico por biopsia de ganglio periportal y periesplénico. El cultivo fue positivo para Histoplasma capsulatum y en estudios histopatológicos se observó linfadenitis granulomatosa con elementos levaduriformes intracelulares. Realizó tratamiento con anfotericina B 1 mg/kg/día durante 6 semanas con favorable resolución clínica. Se debe considerar histoplasmosis diseminada en aquellos pacientes provenientes de zonas endémicas que presentan la tríada de fiebre, hepatoesplenomegalia y citopenias, para poder brindar un tratamiento oportuno, mejorar el pronóstico y disminuir la mortalidad de la enfermedad.

Histoplasmosis is an endemic fungal infection caused by the fungus Histoplasma capsulatum. The disseminated form is associated with a high morbidity and mortality in pediatrics. Here we report the case of an immunocompetent female patient diagnosed with disseminated histoplasmosis. She was 3 years old and presented with protracted febrile syndrome and hepatosplenomegaly confirmed by ultrasound. Lab tests showed normocytic anemia and leukopenia. Diagnosis was made by periportal and perisplenic lymph node biopsy. The culture was positive for Histoplasma capsulatum and histopathological studies showed granulomatous lymphadenitis with intracellular yeast-like elements. Amphotericin B was administered at 1 mg/kg/day for 6 weeks, with a favorable clinical course. Disseminated histoplasmosis should be considered in patients from endemic areas who present the triad of fever, hepatosplenomegaly, and cytopenias so as to provide a timely treatment, improve prognosis, and reduce the mortality from this disease.

Rinitis alérgica en pediatría: recomendaciones para su diagnóstico y tratamiento / Allergic rhinitis in pediatrics: recommendations for diagnosis and treatment

La rinitis alérgica (RA) es una de las enfermedades crónicas más frecuentes de la infancia. Sin embargo, permanece subdiagnosticada y subtratada. Su prevalencia ha aumentado en los últimos años y varía del 2 % al 25 %. Los síntomas de la RA incluyen estornudos, prurito, rinorrea y congestión nasal. Un correcto diagnóstico y tratamiento de la RA y sus comorbilidades, tales como rinosinusitis con o sin poliposis nasal, conjuntivitis, otitis media, asma bronquial e infecciones del tracto respiratorio, son importantes para reducir el impacto negativo en la afectación de la calidad de vida del paciente y sus familiares, y los gastos sanitarios que ocasiona. La inmunoterapia alérgeno específica, en pacientes correctamente seleccionados, previene nuevas sensibilizaciones y reduce la hiperreactividad bronquial asociada a la RA. Considerando todos estos factores, el Comité Nacional de Alergia de la Sociedad Argentina de Pediatría propone recomendaciones basadas en la evidencia actual.

Allergic rhinitis (AR) is one of the most common chronic diseases in children. However, it remains underdiagnosed and undertreated. Its prevalence has increased in recent years and varies from 2 to 25 %. Symptoms include sneezing, itching, runny nose, and nasal congestion. A correct diagnosis and treatment of AR and its comorbidities such as rhinosinusitis with or without nasal polyposis, conjunctivitis, otitis media, bronchial asthma and respiratory tract infections, are important to reduce the negative impact on the quality of life of the patient and their relatives, and in medical costs. Specific allergen immunotherapy, in correctly selected patients, prevents new sensitizations and reduces bronchial hyperreactivity associated with AR. Taking into account all these reasons, the National Allergy Committee of the Sociedad Argentina de Pediatría proposes current evidence based recommendations

[Allergic rhinitis in pediatrics: recommendations for diagnosis and treatment]. / Rinitis alérgica en pediatría: recomendaciones para su diagnóstico y tratamiento.

Allergic rhinitis (AR) is one of the most common chronic diseases in children. However, it remains underdiagnosed and undertreated. Its prevalence has increased in recent years and varies from 2 to 25 %. Symptoms include sneezing, itching, runny nose, and nasal congestion. A correct diagnosis and treatment of AR and its comorbidities such as rhinosinusitis with or without nasal polyposis, conjunctivitis, otitis media, bronchial asthma and respiratory tract infections, are important to reduce the negative impact on the quality of life of the patient and their relatives, and in medical costs. Specific allergen immunotherapy, in correctly selected patients, prevents new sensitizations and reduces bronchial hyperreactivity associated with AR. Taking into account all these reasons, the National Allergy Committee of the Sociedad Argentina de Pediatría proposes current evidence based recommendations.

La rinitis alérgica (RA) es una de las enfermedades crónicas más frecuentes de la infancia. Sin embargo, permanece subdiagnosticada y subtratada. Su prevalencia ha aumentado en los últimos años y varía del 2 % al 25 %. Los síntomas de la RA incluyen estornudos, prurito, rinorrea y congestión nasal. Un correcto diagnóstico y tratamiento de la RA y sus comorbilidades, tales como rinosinusitis con o sin poliposis nasal, conjuntivitis, otitis media, asma bronquial e infecciones del tracto respiratorio, son importantes para reducir el impacto negativo en la afectación de la calidad de vida del paciente y sus familiares, y los gastos sanitarios que ocasiona. La inmunoterapia alérgeno específica, en pacientes correctamente seleccionados, previene nuevas sensibilizaciones y reduce la hiperreactividad bronquial asociada a la RA. Considerando todos estos factores, el Comité Nacional de Alergia de la Sociedad Argentina de Pediatría propone recomendaciones basadas en la evidencia actual.

Disseminated histoplasmosis in an immunocompetent pediatric patient. / Histoplasmosis diseminada en una paciente pediátrica inmunocompetente.

Histoplasmosis is an endemic fungal infection caused by the fungus Histoplasma capsulatum. The disseminated form is associated with a high morbidity and mortality in pediatrics. Here we report the case of an immunocompetent female patient diagnosed with disseminated histoplasmosis. She was 3 years old and presented with protracted febrile syndrome and hepatosplenomegaly confirmed by ultrasound. Lab tests showed normocytic anemia and leukopenia. Diagnosis was made by periportal and perisplenic lymph node biopsy. The culture was positive for Histoplasma capsulatum and histopathological studies showed granulomatous lymphadenitis with intracellular yeast-like elements. Amphotericin B was administered at 1 mg/kg/day for 6 weeks, with a favorable clinical course. Disseminated histoplasmosis should be considered in patients from endemic areas who present the triad of fever, hepatosplenomegaly, and cytopenias so as to provide a timely treatment, improve prognosis, and reduce the mortality from this disease.

La histoplasmosis es una micosis endémica producida por el hongo Histoplasma capsulatum. La forma diseminada en pediatría conlleva alta morbimortalidad. Reportamos el caso de una niña inmunocompetente con diagnóstico de histoplasmosis diseminada. Paciente de 3 años de edad con cuadro clínico de síndrome febril prolongado acompañado de hepatoesplenomegalia confirmada por ecografía. Laboratorio con anemia normocítica, normocrómica y leucopenia. Se arribó al diagnóstico por biopsia de ganglio periportal y periesplénico. El cultivo fue positivo para Histoplasma capsulatum y en estudios histopatológicos se observó linfadenitis granulomatosa con elementos levaduriformes intracelulares. Realizó tratamiento con anfotericina B 1 mg/kg/día durante 6 semanas con favorable resolución clínica. Se debe considerar histoplasmosis diseminada en aquellos pacientes provenientes de zonas endémicas que presentan la tríada de fiebre, hepatoesplenomegalia y citopenias, para poder brindar un tratamiento oportuno, mejorar el pronóstico y disminuir la mortalidad de la enfermedad.

CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Assessment of nasal obstruction by subjective methods and peak nasal inspiratory flow in children and adolescents with chronic rhinitis. / Evaluación de la obstrucción nasal por métodos subjetivos y pico flujo inspiratorio nasal en niños y adolescentes con rinitis crónica.

INTRODUCTION: Nasal obstruction (NO) is the most irritating symptom of chronic rhinitis (CR). The results of studies that correlated subjective and objective methods of NO in children and adults were contradictory. OBJECTIVES: To analyze the correlation between subjective NO scales and peak nasal inspiratory flow (PNIF) measurements and compare the subjective NO assessment and PNIF in children by age. POPULATION AND METHODS: Participants were patients with CR. The correlation between the subjective NO assessment using a visual analog scale (NO-VAS) and the Nasal Obstruction Symptom Evaluation (NOSE) and nasal airflow measurement pre- and post-vasoconstrictor administration using the PNIF was estimated. The differences in the subjective NO assessment and PNIF between children aged 8-11 years and 12-15 years were analyzed. RESULTS: A total of 79 patients aged 8-15 years were included. No correlation was established between the NO-VAS and the PNIF before and after vasoconstrictor administration (r = -0.19; p = 0.11 and r = -0.18; p = 0.15 respectively) or between the NOSE and the baseline PNIF (r = -0.23; p = 0.07). Differences were observed in the PNIF between children aged 8-11 years and 12-15 years (p =<0.0001), but there were no differences in the subjective perception assessed with the NO-VAS (p = 0.7591). CONCLUSION: No correlation was demonstrated between the subjective NO score and the PNIF in children and adolescents with CR. Older children have a lower perception of NO than younger ones. Subjective NO scales cannot replace the PNIF measurement in patients with rhinitis.

Introducción. La obstrucción nasal (ON) es el síntoma más molesto de la rinitis crónica (RC). Los estudios que correlacionaron métodos subjetivos y objetivos de ON realizados en niños y adultos produjeron resultados contradictorios. Objetivos. Analizar la correlación entre escalas subjetivas de ON con determinaciones de pico flujo inspiratorio nasal (PFIN) y comparar la valoración subjetiva de la ON y el PFIN en niños según su edad. Población y métodos. Participaron pacientes con RC. Se estimó la correlación entre la evaluación subjetiva de la ON mediante una escala visual análoga (ON-EVA, por su sigla en inglés) y la Escala de evaluación de los síntomas de obstrucción nasal (NOSE, por su sigla en inglés) y medición del flujo aéreo nasal pre- y posvasoconstrictor, mediante PFIN. Se analizaron las diferencias entre los grupos de 8 a 11 años y los de 12 a 15 años para la valoración subjetiva de la ON y PFIN. Resultados. Se incluyeron 79 pacientes entre 8 y 15 años. No se comprobó correlación entre ON-EVA y PFIN antes y después del vasoconstrictor (r = -0,19; p = 0,11 y r = -0,18; p = 0,15 respectivamente) ni entre NOSE y PFIN basal (r = -0,23; p = 0,07). Hubo diferencias en el PFIN entre niños de 8-11 años y 12 a 15 años (p =<0,0001), pero no se demostraron diferencias en la percepción subjetiva por ONEVA (p = 0,7591). Conclusión. No se demostró correlación entre puntajes subjetivos de ON y PFIN en niños y adolescentes con RC. Los niños mayores perciben menos la ON que los de menor edad. Las escalas subjetivas de ON no reemplazan su medición con PFIN en pacientes con rinitis.

Evaluación de la obstrucción nasal por métodos subjetivos y pico flujo inspiratorio nasal en niños y adolescentes con rinitis crónica / Assessment of nasal obstruction by subjective methods and peak nasal inspiratory flow in children and adolescents with chronic rhinitis

Introducción. La obstrucción nasal (ON) es el síntoma más molesto de la rinitis crónica (RC). Los estudios que correlacionaron métodos subjetivos y objetivos de ON realizados en niños y adultos produjeron resultados contradictorios. Objetivos. Analizar la correlación entre escalas subjetivas de ON con determinaciones de pico flujo inspiratorio nasal (PFIN) y comparar la valoración subjetiva de la ON y el PFIN en niños según su edad. Población y métodos. Participaron pacientes con RC. Se estimó la correlación entre la evaluación subjetiva de la ON mediante una escala visual análoga (ON-EVA, por su sigla en inglés) y la Escala de evaluación de los síntomas de obstrucción nasal (NOSE, por su sigla en inglés) y medición del flujo aéreo nasal pre- y posvasoconstrictor, mediante PFIN. Se analizaron las diferencias entre los grupos de 8 a 11 años y los de 12 a 15 años para la valoración subjetiva de la ON y PFIN. Resultados. Se incluyeron 79 pacientes entre 8 y 15 años. No se comprobó correlación entre ON-EVA y PFIN antes y después del vasoconstrictor (r = -0,19; p = 0,11 y r = -0,18; p = 0,15 respectivamente) ni entre NOSE y PFIN basal (r = -0,23; p = 0,07). Hubo diferencias en el PFIN entre niños de 8-11 años y 12 a 15 años (p = <0,0001), pero no se demostraron diferencias en la percepción subjetiva por ON-EVA (p = 0,7591). Conclusión. No se demostró correlación entre puntajes subjetivos de ON y PFIN en niños y adolescentes con RC. Los niños mayores perciben menos la ON que los de menor edad. Las escalas subjetivas de ON no reemplazan su medición con PFIN en pacientes con rinitis.

Introduction. Nasal obstruction (NO) is the most irritating symptom of chronic rhinitis (CR). The results of studies that correlated subjective and objective methods of NO in children and adults were contradictory. Objectives. To analyze the correlation between subjective NO scales and peak nasal inspiratory flow (PNIF) measurements and compare the subjective NO assessment and PNIF in children by age. Population and methods. Participants were patients with CR. The correlation between the subjective NO assessment using a visual analog scale (NO-VAS) and the Nasal Obstruction Symptom Evaluation (NOSE) and nasal airflow measurement pre- and post-vasoconstrictor administration using the PNIF was estimated. The differences in the subjective NO assessment and PNIF between children aged 8-11 years and 12-15 years were analyzed. Results. A total of 79 patients aged 8-15 years were included. No correlation was established between the NO-VAS and the PNIF before and after vasoconstrictor administration (r = -0.19; p = 0.11 and r = -0.18; p = 0.15 respectively) or between the NOSE and the baseline PNIF (r = -0.23; p = 0.07). Differences were observed in the PNIF between children aged 8-11 years and 12-15 years (p = < 0.0001), but there were no differences in the subjective perception assessed with the NO-VAS (p = 0.7591). Conclusion. No correlation was demonstrated between the subjective NO score and the PNIF in children and adolescents with CR. Older children have a lower perception of NO than younger ones. Subjective NO scales cannot replace the PNIF measurement in patients with rhinitis

[Comparative analysis of exhaled nitric oxide in children and teenagers with allergic and non-allergic rhinitis]. / Análisis comparativo de la fracción exhalada de óxido nítrico en niños y en adolescentes con rinitis alérgica y no alérgica.

BACKGROUND: There is subclinical bronchial inflammation in patients with allergic rhinitis (AR). There is less evidence of inflammation of the lower airway in non-allergic rhinitis (NAR). OBJECTIVE: To investigate the inflammation of the lower airway by exhaled nitric oxide (FeNO) in patients with AR and NAR without asthma and its link to lung function, the severity of rhinitis, and biomarkers of atopy. METHODS: A cross-sectional study of patients aged 6 to 18 years, with AR or NAR without asthma. Spirometry, serum IgE, blood eosinophil count and FeNO were carried out. Rhinitis was classified according to the ARIA guide. RESULTS: Forty patients were included; 28 with AR and 12 with NAR. Patients with AR showed higher FeNO levels (medium 36.5 ppb; range 5-114) than those with NAR (medium 7 ppb; range 5-24) (p = 0.0011). Elevated FeNO was linked to spirometric abnormalities [OR= 7.14 (95 % CI 1.04-49.04), p = 0.049)]. In AR, there was correlation between FeNO and blood eosinophils (r = 0.41, p = 0-33). CONCLUSIONS: Both children and teenagers with AR showed higher FeNO than patients with NAR, which was correlated with blood eosinophilia and altered lung function.

Antecedentes: Existe inflamación bronquial subclínica en pacientes con rinitis alérgica. Son menos las evidencias de inflamación de la vía aérea inferior en rinitis no alérgica. Objetivo: Investigar inflamación de la vía aérea inferior por la fracción exhalada de óxido nítrico (FeNO) en pacientes con rinitis alérgica y rinitis no alérgica sin asma y su asociación con función pulmonar, gravedad de la rinitis y biomarcadores de atopia. Métodos: Estudio transversal de pacientes entre seis y 18 años, con rinitis alérgica o rinitis no alérgica sin asma. Se realizó espirometría, IgE sérica, recuento de eosinófilos hemáticos y FeNO. Se clasificó la rinitis según guía ARIA. Resultados: Se incluyeron 40 pacientes, 28 con rinitis alérgica y 12 con rinitis no alérgica. Los pacientes con rinitis alérgica tuvieron niveles de FeNO más elevados (mediana 36.5 ppb, rango 5-114) que aquellos con rinitis no alérgica (mediana 7 ppb, rango 5-24) (p = 0.0011). La FeNO elevada se asoció con anormalidad espirométrica (RM = 7.14 [IC 95 % = 1.04-49.04], p = 0.049). En la rinitis alérgica, existió correlación entre FeNO y eosinófilos en sangre (r = 0.41, p = 0-33). Conclusiones: Los niños y adolescentes con rinitis alérgica tuvieron FeNO más elevada que los pacientes con rinitis no alérgica, que se correlacionó con eosinofilia hemática y función pulmonar alterada.

Síndrome de fiebre periódica: serie de casos / Periodic fever syndrome: Case series

El síndrome de fiebre periódica (SFP) se caracteriza clínicamente por episodios repetidos y variables de inflamación sistémica en donde no se encuentra causa infecciosa, neoplásica ni evidencia de autoantígenos o autoanticuerpos. Los síntomas alternan con períodos de remisión total. La manifestación clínica cardinal es la presencia de fiebre, que se acompaña de síntomas sistémicos (artritis, serositis, exantema y afectación ocular) y similares entre una crisis y otra, que duran días a semanas. Presentan como características generales inicio en la infancia y duración autolimitada de los síntomas. SFP se ubican en el grupo VII de la clasificación de inmunodeficiencias primarias, en estos se debe diferenciar las enfermedades vinculados a mutaciones monogénicas, con pronóstico complejo, de las formas benignas denominadas "fiebre periódica, aftas, faringitis y adenopatías" (PFAPA). Para clasificar a pacientes con SFP se usan los criterios establecidos por Eurofever Classification Criteria (ECC)6 y en las formas benignas, los criterios de Thomas. (AU)

Periodic fever syndrome (PFS) is clinically characterized by repeated and variable episodes of systemic inflammation in which there is no infectious, neoplastic cause or evidence of autoantigens or autoantibodies. Symptoms alternate with periods of total remission. The cardinal clinical manifestation is the presence of fever, which is accompanied by systemic symptoms (arthritis, serositis, exanthema and ocular involvement) and that they are similar between one crisis and another, lasting days to weeks. They present as general characteristics, childhood onset and self-limited duration of symptoms. PFS is in group VII of the classification of primary immunodeficiencies, in which it is important to differentiate the diseases linked to monogenic mutations, with complex prognosis, from the benign forms called "periodic fever, aphthous, pharyngitis and adenopathy" (PFAPA). The criteria established by Eurofever Classification Criteria (ECC) are used to classify patients with PFS and for the benign forms, the Thomas criteria. (AU)

Relationship between rhinitis severity and lung function in children and adolescents without asthma. / [Relación entre grado clínico de rinitis y función pulmonar en niños y adolescentes sin asma.]

Background: The link between upper and lower airways is recognized clinically as a "unique airway". Subclinical spirometric abnormalities have been observed in patients with rhinitis without asthma, which could be proportional to rhinitis severity. Objectives: To investigate possible subclinical alterations in lung function and bronchodilator reversibility in children and adolescents with allergic (AR) and non-allergic rhinitis (NAR) without asthma, according to the clinical grade of rhinitis classified by ARIA (Allergic Rhinitis and Its Impact on Asthma). Methods: In a cross-sectional analytical study, we included patients aged 5 to 18 years with symptoms of AR and NAR without asthma. Spirometry was performed by flow-volume curve and we analyzed the abnormalities in respiratory function and bronchodilator response in relation to clinical grade of rhinitis by ARIA using an adjusted logistic model. Results: We studied 193 patients; 42 (21.7%) had some spirometric abnormalities. Patients with moderate-severe persistent rhinitis had greater impairment of lung function compared to the other grades of rhinitis (p=0.009). This defect was associated with both frequency (p=0.03) and severity of rhinitis (p=0.04) but not with atopic status (p=0.28). A positive bronchodilator response was more frequent in grades moderate-severe of rhinitis than in mild forms (p=0.04). Conclusion: Abnormalities of lung function was more prevalent in moderate-severe persistent rhinitis and was associated with the frequency and severity of rhinitis but not to atopic status. The bronchodilator reversibility was observed in patients with intermittent and persistent moderate-severe rhinitis.

Introducción: Las vías aéreas superior e inferior se comportan como una unidad. Se han observado alteraciones espirométricas subclínicas en pacientes con rinitis, sin asma, que podrían ser proporcionales a la magnitud de la rinitis. Objetivos: Investigar las posibles alteraciones de la función pulmonar y reversibilidad al broncodilatador en niños y adolescentes con rinitis alérgica (RA) y no alérgica (RNA), sin asma, según el grado clínico de rinitis establecido por ARIA (Rinitis Alérgica y su Impacto en Asma). Población y métodos: Estudio transversal analítico. Se incluyeron pacientes entre 5 y 18 años con RA y RNA, sin asma. Se analizó la existencia de anormalidades en la función pulmonar (curva flujo-volumen) y la respuesta broncodilatadora en relación al grado clínico de rinitis por ARIA ajustando un modelo logístico.Resultados: Se estudiaron 193 pacientes; 42 (21,7%) tuvieron al menos un parámetro espirométrico alterado. Los pacientes con rinitis persistente moderada-grave presentaron mayor afectación de la función pulmonar respecto a otros grados de rinitis (p=0,009). El defecto se asoció a la frecuencia (p=0,03) y a la gravedad de la rinitis (p=0,04) pero no con la atopia (p=0,28). La respuesta broncodilatadora positiva fue más frecuente en los grados de rinitis moderada-grave que en los leves (p=0,04). Conclusiones: La alteración de la función pulmonar fue más prevalente en la rinitis persistente moderada-grave y se asoció a la frecuencia y la gravedad de la rinitis pero fue independiente de la condición de atopia. La reversibilidad al broncodilatador se observó en pacientes con rinitis intermitente y persistente moderada-grave.

Clinical comparison between patients with selective immunoglobulin A deficiency and other primary immunodeficiencies.

Primary immunodeficiencies (PID) are low-prevalence diseases. There are warning signs that may raise clinical suspicion. The objectives of this study were to describe the clinical characteristics and warning signs of patients with PID and to compare the clinical differences between selective immunoglobulin A (IgA) deficiency and other PIDs. Eighty-nine patients were studied; their median age at the time of diagnosis was 6 years old (4.08-11.67). Fifty-three (59.5%) patients were male. Fifty-four (60.7%) patients had selective IgA deficiency, and 35 (39.3%) had other PIDs. The main clinical manifestations were rhinopharyngitis in 65 (73.03%) patients and atopy in 39 (43.82%). Twenty- four (26.97%) patients showed warning signs, and none had selective IgA deficiency. Patients with other PIDs had a higher incidence of lower respiratory tract infection, sepsis, skin infections, mucocutaneous candidiasis, dental alterations, cardiovascular malformations, angioedema, hospitalizations and death. Ten (28.57%) patients received intravenous gammaglobulin, 15 (42.85%) antibiotic prophylaxis, and 2 (2.24%) antifungal prophylaxis.

Analysis of the flow-volume curve in children and adolescents with allergic rhinitis without asthma.

INTRODUCTION: There is epidemiological, functional and pathologic evidence that relates upper and lower airways, clinically known as a single respiratory tract. Patients with allergic rhinitis without asthma may present subclinical abnormal spirometry parameters. OBJECTIVES: To describe the results of the flow-volume curve in a group of patients with allergic rhinitis without asthma and analyze the possible associations between anthropometric, clinical and biochemical outcome measures with abnormal spirometry results. POPULATION AND METHODS: Observational, descriptive study including children and adolescents aged 6 to 18 years old with symptoms of allergic rhinitis without asthma. Age, gender, body mass index and duration of rhinitis were determined as per the subject's medical record. Allergen skin tests, flow-volume curve spirometry, determination of eosinophil count in blood and in nasal secretions, and total serum IgE were performed. RESULTS: A total of 84 patients were studied; 21 (25%; 95% CI: 15.1-34.8) presented at least one altered spirometry outcome measure. The FEV1/FVC ratio was the most affected outcome measure (10/84; 12%; 95% CI: 4.3-19.4). The multiple logistic regression analysis determined that spirometry alterations were associated with the number of blood eosinophils (OR: 1.00229; 95% CI: 1.00022-1.00436; p= 0.03) and the body mass index (OR: 1.31282; 95% CI: 1.08611-1.58685; p= 0.0049). CONCLUSIONS: Our results showed spirometry alterations in a considerable percentage of children and adolescents with allergic rhinitis without asthma. The blood eosinophil count and the body mass index could be associated with a sub-clinical alteration of pulmonary function.

Análisis de la curva flujo-volumen en niños y adolescentes con rinitis alérgica sin asma / Analysis of the fow-volume curve in children and adolescents with allergic rhinitis without asthma

Introducción. Existen evidencias epidemiológicas, funcionales y patológicas que vinculan las vías aéreas superior e inferior, reconocidas clínicamente como una vía aérea única. Los pacientes con rinitis alérgica sin asma podrían presentar anormalidades espirométricas subclínicas. Objetivos. Describir los resultados de las curvas fujo-volumen en un grupo de pacientes con rinitis alérgica sin asma y analizar las posibles asociaciones entre las variables antropométricas, clínicas y bioquímicas con los resultados anormales de las pruebas espirométricas. Población y métodos. Estudio observacional descriptivo, en el que se incluyeron niños y adolescentes de entre 6 y 18 años con síntomas de rinitis alérgica sin asma. Se estableció la edad, el sexo, el índice de masa corporal y la duración de la rinitis por la historia clínica. Se realizaron pruebas cutáneas con alérgenos, espirometría por curva fujo-volumen, determinación de eosinóflos en la sangre y la secreción nasal, e IgE sérica total. Resultados. Se estudiaron 84 pacientes; 21 (25%; IC 95% 15,1 a 34,8) presentaron alguna variable espirométrica alterada. El índice FEV1/FVC fue el más afectado (10/84; 12% IC 95% 4,3 a 19,4). El análisis de regresión logística múltiple determinó que la alteración espirométrica se asoció con el número de eosinóflos en la sangre (OR 1,00229; IC 95% 1,00022 a 1,00436; p= 0,03) y el índice de masa corporal (OR 1,31282; IC 95% 1,08611 a 1,58685; p= 0,0049). Conclusiones. Los resultados muestran la presencia de alteraciones espirométricas en un importante porcentaje de niños y adolescentes con rinitis alérgica sin asma. El recuento absoluto de eosinóflos en la sangre y el índice de masa corporal estarían asociados a la alteración subclínica de la función pulmonar.

Introduction. There is epidemiological, functional and pathologic evidence that relates upper and lower airways, clinically known as a single respiratory tract. Patients with allergic rhinitis without asthma may present subclinical abnormal spirometry parameters. Objectives. To describe the results of the fow-volume curve in a group of patients with allergic rhinitis without asthma and analyze the possible associations between anthropometric, clinical and biochemical outcome measures with abnormal spirometry results. Population and Methods. Observational, descriptive study including children and adolescents aged 6 to 18 years old with symptoms of allergic rhinitis without asthma. Age, gender, body mass index and duration of rhinitis were determined as per the subject's medical record. Allergen skin tests, fow-volume curve spirometry, determination of eosinophil count in blood and in nasal secretions, and total serum IgE were performed. Results. A total of 84 patients were studied; 21 (25%; 95% CI: 15.1-34.8) presented at least one altered spirometry outcome measure. The FEV1/FVC ratio was the most affected outcome measure (10/84; 12%; 95% CI: 4.3-19.4). The multiple logistic regression analysis determined that spirometry alterations were associated with the number of blood eosinophils (OR: 1.00229; 95% CI: 1.00022-1.00436; p= 0.03) and the body mass index (OR: 1.31282; 95% CI: 1.08611-1.58685; p= 0.0049). Conclusions. Our results showed spirometry alterations in a considerable percentage of children and adolescents with allergic rhinitis without asthma. The blood eosinophil count and the body mass index could be associated with a sub-clinical alteration of pulmonary function.

Análisis de la curva flujo-volumen en niños y adolescentes con rinitis alérgica sin asma / Analysis of the fow-volume curve in children and adolescents with allergic rhinitis without asthma

Introducción. Existen evidencias epidemiológicas, funcionales y patológicas que vinculan las vías aéreas superior e inferior, reconocidas clínicamente como una vía aérea única. Los pacientes con rinitis alérgica sin asma podrían presentar anormalidades espirométricas subclínicas. Objetivos. Describir los resultados de las curvas fujo-volumen en un grupo de pacientes con rinitis alérgica sin asma y analizar las posibles asociaciones entre las variables antropométricas, clínicas y bioquímicas con los resultados anormales de las pruebas espirométricas. Población y métodos. Estudio observacional descriptivo, en el que se incluyeron niños y adolescentes de entre 6 y 18 años con síntomas de rinitis alérgica sin asma. Se estableció la edad, el sexo, el índice de masa corporal y la duración de la rinitis por la historia clínica. Se realizaron pruebas cutáneas con alérgenos, espirometría por curva fujo-volumen, determinación de eosinóflos en la sangre y la secreción nasal, e IgE sérica total. Resultados. Se estudiaron 84 pacientes; 21 (25%; IC 95% 15,1 a 34,8) presentaron alguna variable espirométrica alterada. El índice FEV1/FVC fue el más afectado (10/84; 12% IC 95% 4,3 a 19,4). El análisis de regresión logística múltiple determinó que la alteración espirométrica se asoció con el número de eosinóflos en la sangre (OR 1,00229; IC 95% 1,00022 a 1,00436; p= 0,03) y el índice de masa corporal (OR 1,31282; IC 95% 1,08611 a 1,58685; p= 0,0049). Conclusiones. Los resultados muestran la presencia de alteraciones espirométricas en un importante porcentaje de niños y adolescentes con rinitis alérgica sin asma. El recuento absoluto de eosinóflos en la sangre y el índice de masa corporal estarían asociados a la alteración subclínica de la función pulmonar.(AU)

Introduction. There is epidemiological, functional and pathologic evidence that relates upper and lower airways, clinically known as a single respiratory tract. Patients with allergic rhinitis without asthma may present subclinical abnormal spirometry parameters. Objectives. To describe the results of the fow-volume curve in a group of patients with allergic rhinitis without asthma and analyze the possible associations between anthropometric, clinical and biochemical outcome measures with abnormal spirometry results. Population and Methods. Observational, descriptive study including children and adolescents aged 6 to 18 years old with symptoms of allergic rhinitis without asthma. Age, gender, body mass index and duration of rhinitis were determined as per the subjects medical record. Allergen skin tests, fow-volume curve spirometry, determination of eosinophil count in blood and in nasal secretions, and total serum IgE were performed. Results. A total of 84 patients were studied; 21 (25%; 95% CI: 15.1-34.8) presented at least one altered spirometry outcome measure. The FEV1/FVC ratio was the most affected outcome measure (10/84; 12%; 95% CI: 4.3-19.4). The multiple logistic regression analysis determined that spirometry alterations were associated with the number of blood eosinophils (OR: 1.00229; 95% CI: 1.00022-1.00436; p= 0.03) and the body mass index (OR: 1.31282; 95% CI: 1.08611-1.58685; p= 0.0049). Conclusions. Our results showed spirometry alterations in a considerable percentage of children and adolescents with allergic rhinitis without asthma. The blood eosinophil count and the body mass index could be associated with a sub-clinical alteration of pulmonary function.(AU)

Analysis of the flow-volume curve in children and adolescents with allergic rhinitis without asthma. / Analysis of the flow-volume curve in children and adolescents with allergic rhinitis without asthma.

INTRODUCTION: There is epidemiological, functional and pathologic evidence that relates upper and lower airways, clinically known as a single respiratory tract. Patients with allergic rhinitis without asthma may present subclinical abnormal spirometry parameters. OBJECTIVES: To describe the results of the flow-volume curve in a group of patients with allergic rhinitis without asthma and analyze the possible associations between anthropometric, clinical and biochemical outcome measures with abnormal spirometry results. POPULATION AND METHODS: Observational, descriptive study including children and adolescents aged 6 to 18 years old with symptoms of allergic rhinitis without asthma. Age, gender, body mass index and duration of rhinitis were determined as per the subjects medical record. Allergen skin tests, flow-volume curve spirometry, determination of eosinophil count in blood and in nasal secretions, and total serum IgE were performed. RESULTS: A total of 84 patients were studied; 21 (25

; 95

CI: 15.1-34.8) presented at least one altered spirometry outcome measure. The FEV1/FVC ratio was the most affected outcome measure (10/84; 12

; 95

CI: 4.3-19.4). The multiple logistic regression analysis determined that spirometry alterations were associated with the number of blood eosinophils (OR: 1.00229; 95

CI: 1.00022-1.00436; p= 0.03) and the body mass index (OR: 1.31282; 95

CI: 1.08611-1.58685; p= 0.0049). CONCLUSIONS: Our results showed spirometry alterations in a considerable percentage of children and adolescents with allergic rhinitis without asthma. The blood eosinophil count and the body mass index could be associated with a sub-clinical alteration of pulmonary function.