RESUMO

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.

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RESUMO

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.

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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.

Assuntos

RESUMO

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.

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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.

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RESUMO

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

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RESUMO

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.

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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.

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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)

Assuntos

RESUMO

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.

Assuntos

RESUMO

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.

Assuntos