[Clinical- epidemiological characteristics and predictors of coronary complications in children of Argentina with Kawasaki disease]. / Características clínico-epidemiológicas y predictores de complicaciones coronarias en niños de Argentina con enfermedad de Kawasaki.

BACKGROUND: Kawasaki disease (EK) is an acute systemic vasculitis with a risk of developing coronary aneurysms. AIM: To describe the clinical and epidemiological characteristics of children with EK in Argentina and to analyse the risk factors for the development of coronary's complications (CC). METHODS: Multicenter, retrospective, cross-sectional, observational and analytical study. It included patients younger than 18 years of age diagnosed with EK in hospitals in Argentina, between January the 1st, 2010 and December the 31th, 2013. RESULTS: N = 193 subjects. Age: medium: 29 months. Total incidence 5 cases / 10,000 hospital discharges. CC was observed in 15.5% of patients. Increased risk factors for CC: Elevated number of days with fever at the time of treatment placement (p = 0.0033); Increased of: heart frequency (p = 0.0021), erythrosedimentation (ESR) (p = 0.005), C-reactive protein (CRP) (p < 0.0001), leukocytes (p = 0.0006), neutrophils (p = 0.0021); Decreased of hematocrit (p = 0.0007) and hemoglobin (p < 0.0001).Association with CC: non-coronary cardiological alterations (OR = 10,818); PCR greater than 68 mg /L (OR = 11,596); leukocytes greater than 20,000 / mm3 (OR = 4.316); and ESR greater than 64 mm / 1 hour (OR = 4.267). CONCLUSION: The most frequent form of presentation was complete EK, the risk of CC was higher in males, younger than 5 years old, the risk factors (clinical and laboratory) were similar to those described in the literature.

Características clínico-epidemiológicas y predictores de complicaciones coronarias en niños de Argentina con enfermedad de Kawasaki / Clinical- epidemiological characteristics and predictors of coronary complications in children of Argentina with Kawasaki disease

Resumen Introducción: La enfermedad de Kawasaki (EK) es una vasculitis sistémica aguda con riesgo de desarrollar aneurismas coronarios. Objetivos: Describir características clínico-epidemiológicas en niños con diagnóstico de EK en Argentina. Analizar factores de riesgo para el desarrollo de complicaciones coronarias (CC). Población y Métodos: Estudio multicéntrico, retrospectivo, transversal, observacional y analítico. Incluyó pacientes bajo 18 años de edad, con diagnóstico de EK en hospitales de Argentina, entre el 1 de enero de 2010 y el 31 de diciembre de 2013. Resultados: N = 193 sujetos. Edad: mediana: 29 meses. Tasa promedio total país 5 casos/10.000 egresos hospitalarios. Presentaron CC 15,5%. Mayor riesgo de CC: Mayor cantidad de días de fiebre al momento de colocación del tratamiento (p = 0,0033); Aumento de: frecuencia cardíaca (p = 0,0021), eritrosedimentación (VSG) (p = 0,005), proteína C reactiva (PCR) (p < 0,0001), leucocitosis (p = 0,0006), neutrofilia (p = 0,0021); Disminución de hematocrito (p = 0,0007) y hemoglobina (p < 0,0001). Asociación con CC: alteraciones cardiológicas no coronarias (ORv10.818); PCR mayor de 68 mg/L (OR = 11.596); leucocitos mayores a 20.000/mm3 (OR= 4.316); y VSG mayor de 64 mm/1° hora (OR = 4.267). Conclusión: La forma de presentación más frecuente fue EK completa, el riesgo de CC fue mayor en varones, menores de 5 años de edad, los factores de riesgo (clínicos y de laboratorio) fueron semejantes a los descritos en la bibliografía.

Background: Kawasaki disease (EK) is an acute systemic vasculitis with a risk of developing coronary aneurysms. Aim: To describe the clinical and epidemiological characteristics of children with EK in Argentina and to analyse the risk factors for the development of coronary's complications (CC). Methods: Multicenter, retrospective, cross-sectional, observational and analytical study. It included patients younger than 18 years of age diagnosed with EK in hospitals in Argentina, between January the 1st, 2010 and December the 31th, 2013. Results: N = 193 subjects. Age: medium: 29 months. Total incidence 5 cases / 10,000 hospital discharges. CC was observed in 15.5% of patients. Increased risk factors for CC: Elevated number of days with fever at the time of treatment placement (p = 0.0033); Increased of: heart frequency (p = 0.0021), erythrosedimentation (ESR) (p = 0.005), C-reactive protein (CRP) (p < 0.0001), leukocytes (p = 0.0006), neutrophils (p = 0.0021); Decreased of hematocrit (p = 0.0007) and hemoglobin (p < 0.0001).Association with CC: non-coronary cardiological alterations (OR = 10,818); PCR greater than 68 mg /L (OR = 11,596); leukocytes greater than 20,000 / mm3 (OR = 4.316); and ESR greater than 64 mm / 1 hour (OR = 4.267). Conclusion: The most frequent form of presentation was complete EK, the risk of CC was higher in males, younger than 5 years old, the risk factors (clinical and laboratory) were similar to those described in the literature.

[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]. / Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral.

Partial trisomy 4q is a rare chromosomal disease. It involves duplication of a portion (particularly the distal one) of the long arm of chromosome 4. In most cases results from a balanced translocation on one single progenitor. The "de novo" appearance is less common. Depending on the size and location of duplicated genetic material, patients may have different clinical manifestations. Associated eye pathology has been scarcely informed. We report on a novel case of a male infant with a proximal "de novo" 4q12-q22 duplication and bilateral iris, retinal and optic nerve coloboma.

Duplicación parcial del cromosoma 4 asociada con coloboma ocular bilateral / Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma

La trisomía parcial 4q es una enfermedad cromosómica rara causada por la duplicación de una porción (comúnmente la distal) del brazo largo del cromosoma 4. En la mayoría de los casos resulta de una translocación balanceada de uno de los progenitores, siendo menos frecuente la aparición de novo. Los pacientes presentan diversas características clínicas según el tamaño y sitio específico de la región comprometida. Su asociación con patologías oculares ha sido escasamente comunicada. Presentamos el primer caso de un paciente pediátrico de sexo masculino con una duplicación parcial de novo del segmento proximal del brazo largo del cromosoma 4 (4q12-q22) y coloboma bilateral de iris, retina y nervio óptico.

Partial trisomy 4q is a rare chromosomal disease. It involves duplication of a portion (particularly the distal one) of the long arm of chromosome 4. In most cases results from a balanced translocation on one single progenitor. The "de novo" appearance is less common. Depending on the size and location of duplicated genetic material, patients may have different clinical manifestations. Associated eye pathology has been scarcely informed. We report on a novel case of a male infant with a proximal "de novo" 4q12-q22 duplication and bilateral iris, retinal and optic nerve coloboma.