Pancreatitis en la fibrosis quística: correlación con el genotipo y estado pancreático / Pancreatitis in cystic fibrosis: association with genotype and pancreatic status

Introducción: La pancreatitis es una rara complicación en la evolución de pacientes con fibrosis quística (FQ). Puede presentarse en forma de episodios agudos, aislados o repetidos, o evolucionar a cronicidad con progresiva destrucción de la glándula. El objetivo de este estudio fue describir las características de una cohorte de pacientes que habían padecido pancreatitis, conocer su frecuencia e intentar encontrar posibles factores de riesgo asociados. Metodología: Estudio retrospectivo descriptivo de pacientes controlados en unidades de FQ de cinco hospitales españoles que habían padecido pancreatitis. Se recogieron datos demográficos, clínicos y analíticos, y relativos al estado pancreático y el genotipo. Resultados: De 520 pacientes, 17 presentaron pancreatitis. Una prevalencia del 3,3%, superior a la descrita en la literatura. Analizando el estado pancreático, se observó que 8 de ellos eran insuficientes pancreáticos (47,06%), hecho que contrasta, en parte, con lo referido clásicamente al considerar esta complicación más típica de pacientes con cierto grado de reserva pancreática. No se encontraron factores de riesgo ni asociaciones significativas con la genética, edad, sexo u otras características. Conclusiones: En nuestra serie, la prevalencia de pancreatitis es superior a la descrita en la literatura, no tratándose de una complicación exclusiva de suficientes pancreáticos. Se produce más frecuentemente durante la adolescencia o en el inicio de la edad adulta. La enfermedad pulmonar es leve en la mayoría. La genética es variable, sin poder establecerse una clara relación genotipo-fenotipo. Se debe observar a largo plazo la evolución de esta patología intercurrente y diseñar estudios más amplios para obtener resultados más significativos (AU)

Introduction: Pancreatitis is an uncommon complication of cystic fibrosis (CF). Either single or recurrent acute episodes can occur and it occasionally may follow a protracted course with relentless destruction of the pancreas. Moreover mild mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been found in many cases of idiopathic chronic pancreatitis. We describe a group of patients with CF who had one or more episodes of pancreatitis. We have estimated its prevalence in a large population of patients with CF across Spain. Methods: A retrospective descriptive study was conducted by collecting the demographic, clinical and laboratory data, pancreatic status and genotype of CF patients who attended the CF Units in 5 Spanish hospitals. Results: The overall number of CF patients under follow-up in the five centres was 520, of which 17 cases with pancreatitis were identified. The prevalence of pancreatitis in this population was 3.3%, higher than previously reported. Noticeably eight of the 17 patients (47.06%) had pancreatic insufficiency. This appears to be, partly, in contrast with that classically found, as this complication is usually associated with patients with a certain level of pancreatic reserve. No associations with genotype, age, gender or other factors were found. Conclusions: The prevalence of pancreatitis in our CF patients was higher than that found in other CF populations, and was not limited to patients with pancreatic sufficiency. It occurred mostly in teenagers and young adults often with mild pulmonary disease. The CF genotype was variable. The course of the patients should be carefully monitored, and further information on the long-term outcome of larger cohorts of patients is needed (AU)

[Pancreatitis in cystic fibrosis: association with genotype and pancreatic status]. / Pancreatitis en la fibrosis quística: correlación con el genotipo y estado pancreático.

INTRODUCTION: Pancreatitis is an uncommon complication of cystic fibrosis (CF). Either single or recurrent acute episodes can occur and it occasionally may follow a protracted course with relentless destruction of the pancreas. Moreover mild mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been found in many cases of idiopathic chronic pancreatitis. We describe a group of patients with CF who had one or more episodes of pancreatitis. We have estimated its prevalence in a large population of patients with CF across Spain. METHODS: A retrospective descriptive study was conducted by collecting the demographic, clinical and laboratory data, pancreatic status and genotype of CF patients who attended the CF Units in 5 Spanish hospitals. RESULTS: The overall number of CF patients under follow-up in the five centres was 520, of which 17 cases with pancreatitis were identified. The prevalence of pancreatitis in this population was 3.3%, higher than previously reported. Noticeably eight of the 17 patients (47.06%) had pancreatic insufficiency. This appears to be, partly, in contrast with that classically found, as this complication is usually associated with patients with a certain level of pancreatic reserve. No associations with genotype, age, gender or other factors were found. CONCLUSIONS: The prevalence of pancreatitis in our CF patients was higher than that found in other CF populations, and was not limited to patients with pancreatic sufficiency. It occurred mostly in teenagers and young adults often with mild pulmonary disease. The CF genotype was variable. The course of the patients should be carefully monitored, and further information on the long-term outcome of larger cohorts of patients is needed.

[Therapeutic education in asthma management]. / La educación terapéutica en el asma.

All guidelines, protocols and recommendations underline the importance of therapeutic education as a key element in asthma management and control. Considerable evidence supports the efficacy and effectiveness of this measure. Health personnel, as well as patients and their parents, can and should be educated with two main objectives: to achieve the best possible quality of life and to allow self control of the disease. These goals can be attained through an educational process that should be individually tailored, continuous, progressive, dynamic, and sequential. The process poses more than a few difficulties involving patients, health professionals, and the health systems. Knowledge of the various psychological factors that can be present in asthmatic patients, as well as the factors related to the highly prevalent phenomenon of non-adherence, is essential. Awareness of the factors influencing physician-patient-family communication is also highly important to achieve the objectives set in therapeutic education. The educational process helps knowledge and abilities to be acquired and allows attitudes and beliefs to be modified. Patients and caregivers should be provided with an individual written action plan based on symptoms and/or forced expiratory volume in 1 second. Periodic follow-up visits are also required.

La educación terapéutica en el asma / Therapeutic education in asthma management

Todas las recomendaciones, guías y protocolos establecen el papel de la educación terapéutica como elemento clave en el manejo y control del asma, disponiéndose de evidencias que demuestran su eficacia y efectividad. Tanto los profesionales sanitarios como los pacientes y sus familias pueden y han de ser formados y educados, con dos objetivos fundamentales: conseguir una óptima calidad de vida y una capacidad suficiente para manejar el asma de una forma autogestionada. Ello se puede conseguir a través de un proceso educativo que ha de ser individualizado, continuo, progresivo, dinámico y secuencial. En este proceso han de superarse no pocas dificultades, relacionadas con el paciente, con los profesionales y con el propio sistema sanitario. Es preciso conocer los diferentes aspectos psicológicos que pueden relacionarse con el paciente asmático, así como aquellos que están relacionados con el fenómeno tan prevalente de la falta de adherencia. El conocimiento de los factores que inciden en la comunicación médico-paciente-familia es de enorme importancia para conseguir los objetivos que se plantean en la educación terapéutica. El proceso educativo conduce, no sólo a la adquisición de conocimientos y habilidades, sino también a un cambio de actitudes y creencias. Es necesario proveer al paciente y a sus cuidadores de un plan de acción por escrito individualizado, basado en síntomas y/o flujo espiratorio máximo (FEM), ligado siempre a revisiones periódicas

All guidelines, protocols and recommendations underline the importance of therapeutic education as a key element in asthma management and control. Considerable evidence supports the efficacy and effectiveness of this measure. Health personnel, as well as patients and their parents, can and should be educated with two main objectives: to achieve the best possible quality of life and to allow self control of the disease. These goals can be attained through an educational process that should be individually tailored, continuous, progressive, dynamic, and sequential. The process poses more than a few difficulties involving patients, health professionals, and the health systems. Knowledge of the various psychological factors that can be present in asthmatic patients, as well as the factors related to the highly prevalent phenomenon of non-adherence, is essential. Awareness of the factors influencing physician-patient-family communication is also highly important to achieve the objectives set in therapeutic education. The educational process helps knowledge and abilities to be acquired and allows attitudes and beliefs to be modified. Patients and caregivers should be provided with an individual written action plan based on symptoms and/or forced expiratory volume in 1 second. Periodic follow-up visits are also required

[Nephrolitiasis in a patient with cystic fibrosis]. / Nefrolitiasis en un paciente con fibrosis quística.

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Defects in the CFTR gene cause abnormal chloride conductance across the apical membrane of epithelial cells, which results in progressive lung disease and also affects other organs. Because life expectancy has increased, other complications of CF have become more apparent. We present a patient with CF and symptomatic nephrolithiasis. Several stones were evident in both kidneys. A 24-hour urine sample showed hyperoxaluria (141 mg/24 h/ 1.73 m(2)) and hypocitraturia and (206 mg/24 h/1.73 m(2), 177 mg citrate/g creatinine). Nephrolithiasis should be included in the differential diagnosis of patients with CF and abdominal pain; urinary excretion of oxalate and citrate should be investigated.

Nefrolitiasis en un paciente con fibrosis quística / Nephrolitiasis in a patient with cystic fibrosis

La fibrosis quística está causada por mutaciones en el gen regulador de la conductividad transmembrana (CFTR). Defectos en el gen CFTR ocasionan una conductividad alterada del cloro a través de la membrana apical de las células epiteliales, dando lugar a una enfermedad pulmonar progresiva y afectando también a diferentes órganos. Con el aumento de las expectativas de vida otras complicaciones de la fibrosis quística se han hecho más frecuentes. Presentamos una paciente con fibrosis quística y nefrolitiasis sintomática. Varios cálculos eran visibles en ambos riñones. En la muestra de orina de 24 h se evidenció hiperoxaluria (141 mg/24 h/1,73 m 2) e hipocitraturia (206 mg/ 24 h/1,73 m 2, 177 mg citrato/g creatinina). La nefrolitiasis debería estar presente en el diagnóstico diferencial de un paciente con fibrosis quística que tiene dolor abdominal y la excreción de oxalato y citrato debería ser investigada

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Defects in the CFTR gene cause abnormal chloride conductance across the apical membrane of epithelial cells, which results in progressive lung disease and also affects other organs. Because life expectancy has increased, other complications of CF have become more apparent. We present a patient with CF and symptomatic nephrolithiasis. Several stones were evident in both kidneys. A 24-hour urine sample showed hyperoxaluria (141 mg/24 h/ 1.73 m 2) and hypocitraturia and (206 mg/24 h/1.73 m 2, 177 mg citrate/g creatinine). Nephrolithiasis should be included in the differential diagnosis of patients with CF and abdominal pain; urinary excretion of oxalate and citrate should be investigated

[Quality of life of children with cystic fibrosis]. / Calidad de vida de los niños afectos de fibrosis quística.

Cystic fibrosis is a disease that conveys a large amount of anxiety. Nevertheless, it is always said that the psychosocial adaptation of the patients and their families is good. In this study, we analyzed the quality of life and the knowledge of the illness possessed by parents of 55 children with cystic fibrosis. The data obtained suggested a good level of knowledge about the disease and an acceptable assessment of their quality of life. The familiar problems reflected in the study concerned regular school attendance and the communication between parents and patients, mainly concerning the illness. This was more obvious with teenagers (12 cases: 21.8%). Finally, it can be stated that the work activity and social relationships of the families had changed notably since the time of diagnosis (70% of the 55 cases reflect this change), with no differences among the age groups. We conclude by stressing the importance of supporting these families, especially at the moment of diagnosis. The associations for cystic fibrosis are of great importance for preventing psychosocial problems amongst their membership.

[Comparison of treatment of acute asthma attacks in children with salbutamol dispensed by the Volumatic dispenser or by a nebulizer]. / Comparación del tratamiento con salbutamol mediante Volumatic vs nebulizador en niños con ataque agudo de asma.

Eighteen children with acute asthma were administered equal doses of Salbutamol either through a nebulizer and face mask or a dose-metered inhaler, spacer (Volumatic) and tidal breathing mechanism. Consecutive doses at twenty minute intervals were administered until either no significant improvement in pulmonary function was observed or until a cumulative dose of 0.15 mg/Kg (maximum of 5 mgs) had been given. All subjects finally received a dose of 0.15 mg/Kg (maximum of 5 mgs) of nebulized Salbutamol at the end of the study. No difference in bronchodilation was obvious between the methods of treatment. No significant side-effect was observed in any patient. Treatment of acute asthma in children with Salbutamol via a pressurized inhaler, spacer and tidal breathing mechanism may be an efficacious, safe and readily available method, but further work is needed before it can be recommended for routine home management of asthma attacks.

[Increased survival rates of children with cystic fibrosis]. / Aumento de la supervivencia en niños con fibrosis quística.

Seventy-two patients with cystic fibrosis were under care between January 1st 1972 and December 31st 1988, and 75 until now (July 1989). Fifty are alive, 24 died and 1 was lost to follow-up. The number of alive patients under control at the end of every year rose from 5 in 1972 up to 47 in 1988 and 50 at present. In order to assess the progress of survival rates, we compared two periods: 1972-1980 and 1981-1988. Twenty-eight were under control during the first period and 16 (57%) died, these figures for the second period being 55 and 8 (14%) (p 0.001) respectively. A remarkable increase in cumulative survival rates during the second period was observed at ages 1 (96% vs 68%), 5 (94% vs 55%) and 10 (86% vs 28%). Greater experience and closer follow-up, together with more aggressive treatment are likely to account for the increase in survival. It is vital that reference cystic fibrosis centers should be set-up in our country for the management of so complex a disease as 'cystic fibrosis.

[Controlled study of the administration of CDP-choline to preterm newborn infants with respiratory distress syndrome]. / Estudio controlado sobre la adminstración de CPD-colina a recién nacidos pretérmino con síndrome de dificultad respiratoria.

A randomized prospective double-blind trial of CDP-Choline administration to a group of 24 preterm newborn infants with respiratory distress syndrome is reported. CDP-choline was administered by the intravenous route (100 mg/kg/day) for seven days, or until less than 30% supplemental oxygen was needed. By the fifth day of life, the patients who received CDP-choline required oxygen for a longer period of time, and had a lower lecithin/sphingomyelin ratio and palmitic acid percentage than those in the control group. At the dose given, CDP-choline did not induce postnatal pulmonary maturity. In fact, it may even decrease lecithin synthesis.

[Significance of IgG serum levels in cystic fibrosis]. / Significado del nivel sérico de IgG en la fibrosis quística.

IgG serum levels were measured in 25 patients with cystic fibrosis aged 1 to 19 years and in 4 additional patients deceased over the last 4 years. Levels were correlated with a number of parameters. Twelve patients (group A) had raised IgG levels, and 17 (group B) normal or low levels. Age between groups did not differ. Patients in group A had lower Shwachman score (p less than 0.001), worse Chrispin and Norman radiologic score (p less than 0.05), lower weight (p less than 0.001) and height (p less than 0.05) and lower FVC (p less than 0.05), and FEV1 (p less than 0.01). Raised levels were associated with increased number of serum precipitins against Pseudomonas aeruginosa but not against Staphylococcus aureus. Raised IgG levels might be secondary to heavier bronchial infection, but there is growing evidence that immunologic response in cystic fibrosis may worsen the course of the disease.

[Immotile cilia syndrome. Presentation of 3 cases]. / Síndrome de los cilios inmóviles. Presentación de tres casos.

Immotile cilia syndrome is an uncommon disorder, with an autosomal recessive mode of inheritance; the incidence is about 1/25,000 and is a cause of chronic disease of both upper and lower airways, male infertility and, in 50%, situs inversus totalis. It's pathogenesis lies in a variety of genetically determined alteration of ciliary ultrastructure. We report three cases, two in siblings, who had a typical syndrome, all of them with situs inversus totalis (Kartagener syndrome), chronic nasal symptoms, sinusitis and serous otitis with hearing loss. Two had recurrent productive cough with chest X-ray changes suggestive of bronchiectasis. The diagnosis was established in two by bronchial biopsy, showing complete and partial dynein deficiency respectively. In the third case it was based an clinical grounds and familial history. All three children are doing well up to now.

[Bronchodilating effect of terbutaline inhaled with and without a tube spacer in asthmatic children]. / Efecto broncodilatador de la terbutalina inhalada con y sin extensor en niños asmáticos.

Eighteen children aged 10.3 +/- 2.4 years who needed regular use of antiasthmatic drugs and showed after abandoning them with the appropriate intervals a FEV1 below 85% of their highest previous value, received in a randomized, double-blind crossover fashion two puffs of terbutaline 1 hour apart on two consecutive days. The drug was administered either with the conventional inhaler or a 10.3 X 2 cm. Forced spirometry, peak flow, flow-volume loops, and whole body plethysmography were performed basally, and 5, 15 and 45 minutes after each puff. The peak increase of the FEV1 was greater with the spacer (41.7% vs 30.4%, p less than 0.05). The increase of FEV1 was higher with the spacer at 5 minutes following the first puff and at 15 and 45 minutes after the second puff. No difference was observed in the other variables measured. Sixteen inhaled the drug "coordinatedly". The spacer offers some advantage in asthmatic children who inhale terbutaline mostly in a coordinated way.

[Evaluation of the bronchial provocation test with histamine in asthmatic children]. / Valoración de la prueba de provocación bronquial con histamina en niños asmáticos.

Histamine inhalation challenge was performed in 32 asthmatic children aged 6 through 13, 20 control children aged 8 through 14, and 16 control adults aged 24 through 37 years. Histamine concentration producing a 20% fall in baseline FEV1 (PC20FEV1) was obtained. No control adult had a value below 8 mg/ml unlike 7 (35%) control children, all of them with values between 4 and 8 mg/ml. Asthmatics only on intermittent bronchodilators had higher PC20FEV1 values than those requiring daily medications. A value of 2 mg/ml was roughly the limit between these two subpopulations of asthmatic children. Test showed a high reproducibility in a two hour interval. Histamine inhalation challenge is useful in diagnosis of asthma and in assessment of its, severity. A PC20FEV1 value of less than 8 mg/ml may not be always reliable in indicating bronchial hyperreactivity, depending on the method used and-or the population studied.

[Neonatal mechanical ventilation. Experience in 259 cases (author's transl)]. / Ventilación mecánica neonatal. Presentación de 259 casos.

Results obtained in a group of 295 newborn infants who where mechanically ventilated are exposed. Special emphasis is laid on the 104 patients with IRDS. This disease represented the 40% of all causes of respiratory insufficiency leading to mechanical ventilation, and 60% of all the primary respiratory causes. The overall mortality rate of ventilated patients was 77%, decreasing from a high 86% to 69% in the period studied. In patients ventilated because of IRDS, mortality decreased from 86% in 1974 to 55.8% in 1978. That of all patients with IRDS decreased likewise from 57% to 30%. Current concepts in neonatal mechanical ventilation are reviewed.