Screeening neonatal de fibrosis quística: ventajas e inconvenientes. Situación actual en Andalucía Occidental / Current status of the cystic fibrosis newborn screening program in Western andalusia (Spain)

La fibrosis quística (FQ) es la enfermedad genética grave, con herencia autosómica recesiva, más frecuentemente en la población de origen caucásico, con una incidencia de 1 en 2.000-6.000 nacimientos. La esperanza de vida ha aumentado considerablemente, situándose actualmente cercana a los 40 años. Esto es debido a una serie de factores entre los que se encuentra la implantación del cribado neonatal (SNFQ). Actualmente el diagnóstico sintomático de los niños con FQ en nuestro país es raro, gracias al establecvimiento de diferentes programas de screening neonatal, cuyas ventajas están claramente establecidas, destacando el mejor estado nutriciona, mejor función pulmonar y, consecuentemente, mayor supervivencia de los pacientes diagnosticados presintomáticamente. Pese a que el SNFQ está ampliamente aceptado, no existe una única estrategia de screening universalemente aceptada, existiendo en la actualidad 26 programas de SNFQ diferentes. Todos se basan en dos o tres pasos, siendo el primer escalón en todos ellos la cuantificación de tripsinógeno inmunorreactivo (TIR) en muestras de sangre seca que se encuentra elevado como consecuencia de la obstrucción de los conductos pancreáticos. Presentamos los resultados del screening neonatal en Andalucía occidental tras tres años de implantación del mismo (AU)

Cystic fibrosis (CF) is the most common severe genetic disease in the caucasian population,with a recessive autosomal inheritance and with an estimated incidence of 1 in 2,000-6,000 births. Life expectancy has greatly increased and now stands close to 40 years. This is because a number of factors including the implementation of newborn screeening (NS) programs. Currently the diagnosis of symptomatic children with CF is rare in our country due to different wxisting CF NS programs whose benefits are clearly esetablished: improved nutritional status, better lung function and consequently increased survival of patients who had a presymptomatic diagnosis. Although the NS is widely accepted, no single universally screening strategy has been fully accepted and as much as 26 different NS exist today. They are all based on two or three steps; the frst step determines immunireactive trypsinogen (IRT) levels in dried blood, resultls of the NS. We present the results of the CF NS program in western Andalusia that was implemented three years ago (AU)

Successful management of Churg-Strauss syndrome using omalizumab as adjuvant immunomodulatory therapy: first documented pediatric case.

Churg-Strauss syndrome (CSS) is an anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis; it is extremely rare in childhood and defined according to the Chapel-Hill Consensus as an eosinophil-rich and granulomatous inflammation involving the respiratory tract and necrotizing vasculitis affecting small to medium-sized vessels. Children commonly have a history of asthma and sinusitis whilst clinical presentation typically involves pulmonary tract and less frequently skin, heart, gastrointestinal tract, and peripheral nerves. Cardiopulmonary disease is higher in children and prognosis is worse. It is associated with significant eosinophilia and raised serum IgE-levels. ANCA are only found in 25% of childhood cases. Here we report the case of a 10-year-old girl who presented to us with vomiting, abdominal pain, and weight loss, paresthesias of lower extremities and breathlessness as well as a history of asthma, sinusitis and allergic rhinitis. She was treated with corticosteroids, cyclophosphamide, intravenous immunoglobulin, mycophenolate mofetil (MMF), and rituximab. However, remission was only achieved after initiation of omalizumab therapy, a recombinant humanized anti-IgE antibody. To the best of our knowledge this is the first pediatric patient suffering from CSS successfully managed with adjuvant anti-IgE therapy resulting in the control of respiratory as well as gastrointestinal symptoms.

Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa / Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency

La lectina de unión a la manosa (mannose-binding lectin [MBL]) es una proteína sérica perteneciente al sistema inmunitario innato. Se une a los azúcares de las membranas de múltiples microorganismos, favoreciendo su opsonización y eliminación. El déficit de MBL resulta del polimorfismo del gen MBL2 y se asocia a una amplia variedad de infecciones recurrentes, incluidas las infecciones del tracto respiratorio. Presentamos un caso de displasia ectodérmica anhidrótica asociada a un déficit de MBL, inmunodeficiencia nunca descrita en pacientes afectados de displasia ectodérmica anhidrótica(AU)

Mannose-binding lectin (MBL) is a serum protein of the innate immune system.MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens.MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patients with anhidrotic ectodermal dysplasia(AU)

[Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency]. / Displasia ectodérmica anhidrótica asociada a déficit de lectina de unión a manosa.

Mannose-binding lectin (MBL) is a serum protein of the innate immune system. MBL enhances opsonophagocytosis by binding to carbohydrates expressed by multiple pathogens. MBL deficiency is due to polymorphisms in the structural and promoter sequences of the MBL2 gene and is associated with variety of recurrent infections, including respiratory tract infections. We present a case of anhidrotic ectodermal dysplasia associated with severe mannose-binding lectin deficiency, never described in patients with anhidrotic ectodermal dysplasia.

Clínica, diagnóstico y tratamiento de las estenosis traqueales / Clinic, diagnosis and treatment of tracheal stenosis

Introducción: En los últimos años se han desarrollado nuevas técnicas para el tratamiento de las estenosis traqueales (ET). El objetivo del presente estudio es analizar la clínica, el tratamiento y la evolución de las ET que se diagnosticaron en este hospital entre enero de 2004 y agosto de 2007. Material y métodos: Revisión de historias clínicas con análisis de edad al diagnóstico, clínica, enfermedad de base, antecedentes de ventilación mecánica, grado de estenosis, técnica diagnóstica, tratamiento y evolución. Resultados: Se encontraron 16 casos de ET, 2 congénitas y 14 adquiridas. La edad media de diagnóstico fue de 8,8 meses (de 23 días a 2,5 años). Catorce pacientes estuvieron intubados (de 3 a 44 días). Los síntomas guías fueron estridor inspiratorio (44%), dificultad para intubar o extubar (28%) y laringotraqueítis de repetición (39%). Tres pacientes se trataron con láser de dióxido de carbono y tuvieron múltiples reestenosis y reintervenciones. Tres pacientes se trataron con split cricotiroideo y traqueoplastia con cartílago costal. Un paciente se trató con traqueoplastia deslizante. En 5 pacientes con escasos síntomas y ET leve se adoptó actitud expectante. A un paciente con membrana traqueal se le realizó resección y anastomosis terminoterminal. A un paciente se le realizó resección cricotraqueal parcial y tuvo 3 reestenosis. Dos pacientes presentaron un anillo vascular que se trató quirúrgicamente. Conclusiones: Los pacientes asintomáticos pueden recibir una actitud expectante. La resección y anastomosis terminoterminal es la técnica de elección de las estenosis de corta longitud. En las ET de gran longitud, la traqueoplastia deslizante muestra buenos resultados con escasa morbimortalidad (AU)

Introduction: New surgical techniques have been developed for treatment of tracheal stenosis (TS) over the last few years. The aim of the present study is to examine the clinical, therapeutic characteristics and progress of the cases of TS diagnosed in our hospital from January 2004 to August 2007. Methods: We have reviewed the clinical history, focusing on age at diagnosis, clinical signs and symptoms, baseline pathology, previous history of mechanical ventilation, degree of stenosis, diagnostic technique, treatment and progress. Results: A total of 16 cases were found, (2 congenital and 14 acquired). Mean age at diagnosis was 8.8 months (23 days-2.5 years). Of these, 14 patients had been intubated (3–44 days). Clinical suspicion was prompted by inspiratory stridor (44%), difficulty to be extubated or intubated (28%) and recurrent laryngotracheitis (39%). Three patients received CO2 laser therapy and suffered a high number of restenosis and required re-interventions. Three patients underwent costal cartilage tracheoplasty and tracheal-cricoid split, showing a good prognosis and one patient underwent a slide tracheoplasty. Five patients with only a few clinical signs and mild stenosis, were managed on a wait and see basis. One patient with tracheal membrane underwent resection of the stenosed portion and end-to-end anastomosis with favourable progres. Another patient had a partial cricotracheal resection but suffered three restenoses. Two patients underwent surgical correction of the vascular ring. Conclusions: Asymptomatic patients may receive conservative therapy. In the case of short-segment stenosis, resection and end-to-end anastomosis is the therapy of choice and the long-segment stenosis has obtained good results by means of slide tracheoplasty, which involved no deaths and a very low morbidity (AU)

[Clinic, diagnosis and treatment of tracheal stenosis]. / Clínica, diagnóstico y tratamiento de las estenosis traqueales.

INTRODUCTION: New surgical techniques have been developed for treatment of tracheal stenosis (TS) over the last few years. The aim of the present study is to examine the clinical, therapeutic characteristics and progress of the cases of TS diagnosed in our hospital from January 2004 to August 2007. METHODS: We have reviewed the clinical history, focusing on age at diagnosis, clinical signs and symptoms, baseline pathology, previous history of mechanical ventilation, degree of stenosis, diagnostic technique, treatment and progress. RESULTS: A total of 16 cases were found, (2 congenital and 14 acquired). Mean age at diagnosis was 8.8 months (23 days-2.5 years). Of these, 14 patients had been intubated (3-44 days). Clinical suspicion was prompted by inspiratory stridor (44%), difficulty to be extubated or intubated (28%) and recurrent laryngotracheitis (39%). Three patients received CO(2) laser therapy and suffered a high number of restenosis and required re-interventions. Three patients underwent costal cartilage tracheoplasty and tracheal-cricoid split, showing a good prognosis and one patient underwent a slide tracheoplasty. Five patients with only a few clinical signs and mild stenosis, were managed on a wait and see basis. One patient with tracheal membrane underwent resection of the stenosed portion and end-to-end anastomosis with favourable progress. Another patient had a partial cricotracheal resection but suffered three restenoses. Two patients underwent surgical correction of the vascular ring. CONCLUSIONS: Asymptomatic patients may receive conservative therapy. In the case of short-segment stenosis, resection and end-to-end anastomosis is the therapy of choice and the long-segment stenosis has obtained good results by means of slide tracheoplasty, which involved no deaths and a very low morbidity.