The Relation of CFTR-Genotype and Associated Comorbidities to Development of Pulmonary Atelectasis in Cystic Fibrosis Patients

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La Unidad de Neumología Pediátrica y Fibrosis Quística del Hospital Infantil Universitario Miguel Servet / Pediatric pneumology and cystic fibrosis of the Hospital Infantil Universitario Miguel Servet

Se describe en este artículo la estructura, actividad asistencial y docente de la Unidad de Neumología Pediátrica y Fibrosis Quística del Hospital Infantil Miguel Servet, dedicada integramente al cuidado de los niños con enfermedades respiratorias. Es la Unidad de referencia para niños con problemas respiratorios de mayor complejidad en toda la Comunidad de Aragón, en especial para pacientes con asma de difícil control o fibrosis quística, asi como para la realización de diferentes técnicas específicas, como la fibrobroncoscopia (AU)

This article describes the structure, clinical and teaching activity of Pediatric Pulmonology and Cystic Fibrosis Unit in the Children’s Hospital Miguel Servet, entirely dedicated to the care of children with respiratory diseases. It is the reference Unit for children with severe respiratory problems in the community of Aragon, especially for patients with difficult asthma or cystic fibrosis, and also to perform different specific techniques, such as flexible bronchoscopy (AU)

Neumonías recurrentes / Recurrent pneumonias

Se define como neumonía recurrente la ocurrencia de al menos 2 episodios de neumonía en un año, o 3 episodios en diferentes momentos de la vida. Para su estudio debemos seguir un enfoque sistemático y progresivo, partiendo de la historia clínica y seleccionando las exploraciones más adecuadas. Se analizan las principales causas de recurrencia de las neumonías en los niños y se proporciona una sistemática de estudio racional. Los aspectos fundamentales de la anamnesis incluyen la sintomatología de los episodios, sintomatología intercurrente, localización de las neumonías y resolución radiológico o no. El estudio sistemático basado en una adecuada anamnesis y examen físico y uso juicioso de las exploraciones complementarias (estudio inmunoalérgico, función pulmonar, pruebas de imagen, broncoscopia, otras pruebas específicas) permite llegar el diagnóstico de las causas subyacentes de las neumonías recurrentes en el 80-90% de los casos (AU)

Recurrent pneumonia is defined as the occurrence of at least 2 episodes of pneumonia in one year or 3 episodes at different moments of one's life. To study it, we should follow a systematic and progressive approach, beginning with the clinical history and selecting the most adequate examinations. The principal causes of recurrence of pneumonias in children are analyzed and a systematic of rational study is provided. The fundamental aspects of the anamnesis include the symptoms of the episodes, intercurrent symptoms, localization of the pneumonias and radiological resolution or not. The systematic study based on adequate anamnesis and physical examination and sensible use of the complementary examinations (inmunoallergic study, pulmonary function, imaging test, bronchoscopy, other specific tests) make it possible to reach the diagnosis of the underlying causes of the recurrent pneumonias in 80-90% of the cases (AU)

Inducción de esputo en niños: desarrollo técnico / Sputum induction in children: technical development

Objetivos: Comparar el rendimiento (total de muestras obtenidas) de nebulizadores ultrasónicos de flujo bajo y alto en la inducción de esputo en niños asmáticos, y valorar los efectos adversos asociados. Pacientes y métodos: Se nebulizó suero salino hipertónico a concentraciones crecientes (3%, 4%, 5%) utilizando nebulizadores ultrasónicos de bajo flujo (Omron NE-U07(R); flujo 1ml/min) y de alto flujo (Omron NE-U12(R); flujo 3 ml/min, y DeVilbiss Ultraneb 3000(R); flujo 2,5ml/min). Resultados: Se realizaron 49 inducciones en 49 pacientes entre 7 y 15 años de edad (en 15 niños se utilizó un nebulizador de bajo flujo y en 34 niños un nebulizador de alto flujo (Omron NEU12(R): 6 casos, DeVilbiss Ultraneb 3000(R): 28 casos). Se obtuvieron 37 muestras. Treinta y seis presentaban<20% de células escamosas y 26 tenían una viabilidad ≥60%. El rendimiento de la prueba fue mayor con los nebulizadores de alto flujo (85,3% de muestras), frente al 53% (p=0,04). El 69% de las muestras obtenidas con los nebulizadores de alto flujo fueron válidas, frente al 62,5% con el de bajo flujo (p=0,7). Con los nebulizadores de alto flujo disminuyó la incidencia de tos (17,6%, p=0,08) y de picor de ojos (0%, p=0,02), respecto al nebulizador de bajo flujo (47% y 20% respectivamente), aunque aumentó el sabor desagradable (82,3%, p<0,001) y la sialorrea (14,7%, p=0,3). Conclusiones: Con los nebulizadores ultrasónicos de alto flujo se consigue un mayor rendimiento de la técnica sin que se observe un aumento de efectos adversos significativos (AU)

Objective: To compare low and high flow nebulizers performance (total of samples) and its side effects on sputum induction in asthmatic children. Patients and methods: Sputum induction was performed by inhalation of a hypertonic saline solution at increasing concentrations (3%, 4% and 5%) using low flow (OMRON NE-U07(R); flow rate 1ml/min), or high flow (OMRON NE-U12(R); flow rate 3ml/min, and DeVilbiss Ultraneb 3000(R); flow rate 2.5ml/min) ultrasonic nebulizers. Results: We performed 49 inductions in 49 patients from 7 to 15 years old (in 15 children we used a low flow nebulizer (Omron NE-U07(R)) and in 34 children a high flow nebulizer (OMRON NEU12(R), 6 patients, and DeVilbiss Ultraneb 3000(R), 28 patients). We obtained 37 samples of which 36 had less than 20% of squamous cells, and 26 had a viability ≥60%. The test performance was higher with high-flow nebulizers, obtaining 85.3% of samples compared to 53% (p=0.04). A total of 69% of samples obtained with the high flow nebulizer were valid, compared to 62.5% (p=0.7) with the low flow nebulizers. With high flow rate nebulizers the incidence of cough (17.6%, p=0.08) and itchy eyes (0%, p=0.02) decreased with the low flow nebulizer (47% and 20% respectively), but bad taste (82.3%, p <0.001) and salivation (14.7%, p=0.3) increased. Conclusions: With high flow rate ultrasonic nebulizers we obtain a higher performance of the technique without an increase in significant side effects (AU)

[Sputum induction in children: Technical development]. / Inducción de esputo en niños: desarrollo técnico.

OBJECTIVE: To compare low and high flow nebulizers performance (total of samples) and its side effects on sputum induction in asthmatic children. PATIENTS AND METHODS: Sputum induction was performed by inhalation of a hypertonic saline solution at increasing concentrations (3%, 4% and 5%) using low flow (OMRON NE-U07; flow rate 1ml/min), or high flow (OMRON NE-U12; flow rate 3ml/min, and DeVilbiss Ultraneb 3000; flow rate 2.5ml/min) ultrasonic nebulizers. RESULTS: We performed 49 inductions in 49 patients from 7 to 15 years old (in 15 children we used a low flow nebulizer (Omron NE-U07) and in 34 children a high flow nebulizer (OMRON NEU12, 6 patients, and DeVilbiss Ultraneb 3000, 28 patients). We obtained 37 samples of which 36 had less than 20% of squamous cells, and 26 had a viability > or =60%. The test performance was higher with high-flow nebulizers, obtaining 85.3% of samples compared to 53% (p=0.04). A total of 69% of samples obtained with the high flow nebulizer were valid, compared to 62.5% (p=0.7) with the low flow nebulizers. With high flow rate nebulizers the incidence of cough (17.6%, p=0.08) and itchy eyes (0%, p=0.02) decreased with the low flow nebulizer (47% and 20% respectively), but bad taste (82.3%, p <0.001) and salivation (14.7%, p=0.3) increased. CONCLUSIONS: With high flow rate ultrasonic nebulizers we obtain a higher performance of the technique without an increase in significant side effects.

Síndrome hepatopulmonar en niños: evaluación y tratamiento / Hepatopulmonary syndrome in children: Evaluation and treatment

El síndrome hepatopulmonar (SHP) es una enfermedad poco frecuente que afecta a pacientes de cualquier edad con enfermedad hepática aguda o crónica. Su diagnóstico se basa en la presencia de hipoxemia y la demostración de un cortocircuito pulmonar mediante ecocardiografía con contraste o gammagrafía de perfusión pulmonar. La angiografía es de utilidad para detectar fístulas macroscópicas. Se presentan 5 casos clínicos de edad pediátrica con diferente historia natural y evolución. A 2 de éstos se les diagnosticó SHP tipo 1, a otros 2 de tipo 2 y al quinto de tipo 1 y 2, lo que condicionó un enfoque terapéutico diferente en cada uno de los casos (AU)

Hepatopulmonary syndrome is a rare disease that affects patients of any age with acute or chronic liver disease. Its diagnosis is based on the presence of hypoxemia and the demonstration of an intrapulmonary shunting by echocardiography with contrast or perfusion lung scanning. Pulmonary angiography is useful to demonstrate macroscopic arteriovenous communications. We describe five paediatric cases with a different natural history and evolution. Two of them were diagnosed with hepatopulmonary syndrome type 1, another two with type 2 and a fifth one with type 1 and 2, which required a different therapeutic approach in each case (AU)

[Hepatopulmonary syndrome in children: evaluation and treatment]. / Síndrome hepatopulmonar en niños: evaluación y tratamiento.

Hepatopulmonary syndrome is a rare disease that affects patients of any age with acute or chronic liver disease. Its diagnosis is based on the presence of hypoxemia and the demonstration of an intrapulmonary shunting by echocardiography with contrast or perfusion lung scanning. Pulmonary angiography is useful to demonstrate macroscopic arteriovenous communications. We describe five paediatric cases with a different natural history and evolution. Two of them were diagnosed with hepatopulmonary syndrome type 1, another two with type 2 and a fifth one with type 1 and 2, which required a different therapeutic approach in each case.

[Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]. / Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones oculares.

BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an unusual disease that usually leads to end-stage renal failure. There is no specific treatment and, to a variable degree, patients with this disease present ocular abnormalities. The illness is due to a defect in the reabsorption of magnesium and calcium at the thick ascending limb of Henle because of a mutation of the PCLN-1 gene, which encodes a protein, paracellin-1, which intervenes in the reabsorption of both cations. OBJECTIVE: To review outcome and the incidence of ocular abnormalities in our patients and in cases described in Spain and to compare the incidence found with that in groups from other countries. METHOD: Retrospective study of a group of patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis diagnosed at a hospital. RESULTS: There were six girls and three boys with clinical symptoms of polyuria, polydipsia, and less frequently, urinary tract infections and lithiasis. All had hypomagnesemia, hypercalciuria and nephrocalcinosis. Five of the patients had renal failure at diagnosis and four underwent transplantation without recurrence. Eight patients had diverse ocular abnormalities. Eighty-one percent of Spanish patients had ocular abnormalities compared with 24 % of those from other countries. There was no evidence of successful medical treatment. CONCLUSIONS: Almost half of the patients presented chronic renal failure at diagnosis and most of the patients reached end-stage renal failure in the second or third decade of life. Normal glomerular filtration rate was found only in patients diagnosed at an early age. The most frequent extra-renal association in Spanish patients (81 %) corresponded to ocular abnormalities. Effective treatment consists of kidney transplantation that completely corrects the tubular disorder.

Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones oculares / Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities

Antecedentes: La hipomagnesemia familiar con hipercalciuria y nefrocalcinosis es una enfermedad rara que sin tratamiento específico suele conducir a insuficiencia renal terminal y que en grado variable presenta alteraciones oculares. La enfermedad se debe a un defecto en la reabsorción de magnesio y calcio en el segmento grueso de la rama ascendente del asa de Henle debido a una mutación del gen PCLN1, que codifica una proteína, la paracelina-1, que interviene en la reabsorción de ambos cationes. Objetivo: Revisar la evolución clínica de nuestros pacientes y la incidencia de anomalías oculares en nuestros casos y en los casos descritos procedentes de España, comparándola con grupos de otros países. Método: Estudio retrospectivo de un grupo de pacientes con esta enfermedad diagnosticados en un hospital. Resultados: Se presentan 6 niñas y 3 niños con síntomas de poliuria, polidipsia y en menor frecuencia infección del tracto urinario y litiasis. Todos tenían hipomagnesemia, hipercalciuria y nefrocalcinosis. Cinco presentaban insuficiencia renal al ser diagnosticados y cuatro fueron trasplantados sin presentar recidiva de su enfermedad. Ocho presentaban anomalías oculares diversas. El 81 por ciento de los pacientes españoles presentaron anomalías oculares frente al 24 por ciento de otros países. No existe evidencia de tratamiento eficaz. Conclusiones: Casi la mitad de los casos presentaron insuficiencia renal crónica en el momento del diagnóstico y la mayoría de los pacientes alcanzan la insuficiencia renal terminal en la segunda o tercera década de la vida. Sólo los casos de diagnóstico en edades tempranas tenían un filtrado glomerular normal. La asociación extrarrenal más frecuente en pacientes españoles (81 por ciento) corresponde a alteraciones oculares. El tratamiento efectivo es el trasplante renal, que corrige completamente el trastorno tubular. (AU)

[Cleft palate and cleft lip. Clinical review]. / Fisura palatina y labio leporino. Revisión clínica.

UNLABELLED: The aim of this study is to do an analytical study of cleft palate and cleft lip in our hospital. PATIENTS AND METHODS: 85 clinical charts of patients attended in our hospital born between 1976 and 2001 in Aragon and Rioja were reviewed. We studied the incidence of oral cleft, associated malformations and morbidity, familial antecedents and perinatal data, phonatory disfunctions, serose otitis, growth failure and psychiatry problems. RESULTS: The mean incidence was 0.5/1000 newborns. 41.5% presented associated malformations and 19.3% were associated with a specific syndrome, being more frequent in patients affected of cleft palate and cleft lip (50%) than patients with only cleft palate (41.2%) or only cleft lip (8.8%). The most frequent malformations were: facial defects (50%), skeletal (33%), congenital cardiopathies (33%). 19% were born prematurely. The percentage of serose otitis that required control at hospital was 37.3%. 34.2% presented phonatory problems. There was a high incidence of growth failure and psychiatry problems. CONCLUSION: Oral clefts represent a complex clinical condition with a high percentage of medical complications that require a multidisciplinary treatment. The high incidence of congenital defects associated with this condition demand an exhaustive screening in the newborns affected.