Estatus vitamínico actual en pacientes pediátricos y adultos jóvenes con fibrosis quística / Current vitamin status in pediatric and young adult patients with cystic fibrosis

Introducción y objetivos: Las enfermedades como la fibrosis quística (FQ) que asocian malabsorción de grasas, precisan de suplementación de vitaminas liposolubles para evitar su deficiencia. El objetivo de nuestro objetivo fue conocer el estado de las vitaminas A, D y E en pacientes pediátricos y adultos con FQ. Pacientes y métodos. Estudio multicéntrico descriptivo y transversal, realizado en cinco hospitales nacionales, 126 pacientes con FQ sin agudización respiratoria, con edades entre 5 y 38 años. Los niveles de retinol y a-tocoferol se compararon con la población de referencia NHANES para establecer 3 categorías: deficientes (< P5), normales (P5-P95) y elevados (>P95); se consideró deficiencia de vitamina D si los niveles de 25 OH vitamina D fueron menores de 30 ng/ml. Resultados: La mediana de edad fue 14,2 años. El 51% eran varones y un 13% suficientes pancreáticos. El 56% presentaba deficiencia de al menos una vitamina liposoluble. La más frecuente fue la vitamina D (48%), seguida de la E (16%) y por último la vitamina A (11%). Los suficientes pancreáticos tenían niveles de vitamina D más elevados que los insuficientes. La proporción de pacientes con algún grado de deficiencia fue mayor en los pacientes adultos y sus niveles de vitamina D fueron más bajos. Conclusiones: A pesar de recibir una suplementacion adecuada, más de la mitad de los pacientes no alcanzaron niveles óptimos de vitaminas liposolubles. La función pancreática y la edad son dos factores a tener en cuenta a la hora de analizar el estatus vitamínico de estos pacientes

Introduction and objectives: Pancreatic insufficiency and fat and bile malabsoption render individuals with Cystic Fibrosis (CF) at risk for fat-soluble vitamin malabsoption. Our objective was to determine the status of vitamins A, D and E in pediatric and adult patients with CF. Patients and methods. Descriptive cross-sectional study. 126 patients without pulmonary exacerbation, aged between 5 and 38, were recruited in five national Cystic Fibrosis units. Retinol and a-tocopherol levels were compared with NHANES reference values to establish 3 categories: deficient (< P5), Normal (P5- P95) and elevated (> P95), vitamin D was considered deficient if 25 OH vitamin D < 30 ng/ml. Results: The median age was 14.2 years. 51% were male and 13% pancreatic sufficient. 56% had at least one vitamin deficiency. The most frequent was vitamin D (48%), followed by E (16%) and finally vitamin A (11%). Pancreatic sufficient had higher vitamin D levels than insufficient. The proportion of patients with any degree of vitamin deficiency was greater in adults and their vitamin D levels were lower. Conclusions: Despite adequate supplementation, more than half of patients did not reach optimal vitamins levels. Pancreatic status and age were two factors to take into account when analyzing vitamin status of these patients

Resistencia insulínica en pacientes pediátricos con fibrosis quística y sobrepeso / Insulin resistance in overweight cystic fibrosis paediatric patients

Introducción y objetivos: Conocer la prevalencia de sobrepeso en pacientes pediátricos con fibrosis quística (FQ) y su importancia como factor de resistencia insulínica diabetogénica y riesgo de hipertrigliceridemia. Material y métodos: Ciento nueve pacientes con FQ (47% varones) de 5-18 años se calificaron por su índice de masa corporal (IMC): desnutridos, normales o con sobrepeso. Se determinaron colesterol, triglicéridos y proteína C reactiva (PCR), glucohemoglobina y los índices HOMA-IR y QUICKI y en la sobrecarga oral de glucosa (SOG) su índice insulinogénico e ISI composite y áreas bajo la curva (ABC) de glucosa e insulina. Resultados: Seis pacientes (5,5%) tenían sobrepeso. Su edad, distribución sexual y base genética son similares al resto; aunque la proporción de suficientes pancreáticos (3/6; 50%) es superior (p=0,003). Los trastornos glucídicos no son más frecuentes que en el resto; pero la insulina basal, HOMA-IR, y la insulina durante la SOG (pico máximo y ABC) identifican su hiperinsulinismo, diferenciándolos de los otros dos grupos. Todos los pacientes muestran en la SOG respuesta insulínica tardía, sin diferencias en los índices derivados. Conclusiones: Entre los pacientes FQ con sobrepeso no hay mayor incidencia de trastornos glucídicos pero sí de hiperinsulinismo y resistencia insulínica, con el consiguiente riesgo añadido a la tendencia diabetogénica inherente a estos pacientes(AU)

Aim: To determine the prevalence of overweight in paediatric patients with cystic fibrosis (CF) and to analyse its role as diabetogenic insulin resistance factor and risk of hypertriglyceridaemia. Patients and methods: A total of 109 CF patients (47% males) between 5 and 18 years were divided into 3 groups according to body mass index (BMI): underweight, normal and overweight. Total cholesterol, triglycerides, C- reactive protein (CRP), glycosylated haemoglobin, HOMA-IR and QUICKI index were determined. Insulinogenic index, ISI composite and areas under the curve (AUC) for glucose and insulin were obtained by oral glucose tolerance test (OGTT). Results: Six patients (5.5%) were overweight. All groups had similar distribution by age, sex and CFTR mutation, although the proportion of pancreatic sufficient (3/6, 50%) was higher in overweight patients (P=.003). The prevalence of glycaemic disorders was similar between groups. Baseline insulin, HOMA-IR, and insulin during the OGTT (peak and AUC) were higher in overweight patients. All patients had a delayed insulin response in OGTT. Conclusions: Overweight CF patients do not have a higher incidence of glycaemic disorders, but their hyperinsulinism and insulin resistance may be additional diabetogenic risk factors(AU)

[Insulin resistance in overweight cystic fibrosis paediatric patients]. / Resistencia insulínica en pacientes pediátricos con fibrosis quística y sobrepeso.

AIM: To determine the prevalence of overweight in paediatric patients with cystic fibrosis (CF) and to analyse its role as diabetogenic insulin resistance factor and risk of hypertriglyceridaemia. PATIENTS AND METHODS: A total of 109 CF patients (47% males) between 5 and 18 years were divided into 3 groups according to body mass index (BMI): underweight, normal and overweight. Total cholesterol, triglycerides, C- reactive protein (CRP), glycosylated haemoglobin, HOMA-IR and QUICKI index were determined. Insulinogenic index, ISI composite and areas under the curve (AUC) for glucose and insulin were obtained by oral glucose tolerance test (OGTT). RESULTS: Six patients (5.5%) were overweight. All groups had similar distribution by age, sex and CFTR mutation, although the proportion of pancreatic sufficient (3/6, 50%) was higher in overweight patients (P=.003). The prevalence of glycaemic disorders was similar between groups. Baseline insulin, HOMA-IR, and insulin during the OGTT (peak and AUC) were higher in overweight patients. All patients had a delayed insulin response in OGTT. CONCLUSIONS: Overweight CF patients do not have a higher incidence of glycaemic disorders, but their hyperinsulinism and insulin resistance may be additional diabetogenic risk factors.

Estado nutricional en pacientes pediátricos con fibrosis quística / Nutritional condition in pediatric patients with cystic fibrosis

Introducción y objetivos. La importancia de un óptimo estado nutricional en la fibrosis quística es bien conocida, ya que incide en la mortalidad y en la función pulmonar de estos pacientes. Nuestro objetivo fue evaluar el estado nutricional de una muestra de pacientes pediátricos con fibrosis quística. Pacientes y métodos. Estudio multicéntrico descriptivo y transversal, se reclutó en cinco hospitales universitarios nacionales, 109 pacientes con fibrosis quística sin agudización respiratoria, con edades entre 5 y 18 años. Se clasificaron según el índice de masa corporal en: desnutridos, normales y sobrepeso. Análisis estadístico: ANOVA de un factor. Pruebas post-hoc de Bonferroni. Resultados. La edad media fue de 12,65 ± 3,21 años, el47% eran varones. Catorce pacientes (13%) estaban desnutridos, 89 (82%) tenían un estado nutricional normal y 6pacientes (5%) presentaban sobrepeso. Su edad, distribución sexual, base genética son similares en todos los grupos; aunque la proporción de suficientes pancreáticos (3/6; 50%)fue superior (p = 0,003) en los pacientes con sobrepeso. Los valores medios de peso, talla e índice de masa corporal expresados como puntuación Z fueron: -0,62 ± 0,78; -0,20± 1,18 y -0,32 ± 0,84 DS, respectivamente. Si analizamos los distintos datos antropométricos según el sexo y edad de los pacientes no encontramos diferencias estadísticamente significativas entre los mismos. Conclusiones. A pesar de los avances en el tratamiento, un porcentaje no desdeñable de pacientes con fibrosis quística presentan desnutrición. Por otra parte, las pautas de estilo de vida actuales y el soporte nutricional agresivo, podrían suponer en un pequeño porcentaje de casos la aparición de problemas nutricionales por exceso (AU)

Introduction and objectives. The importance of an adequate nutritional state in cystic fibrosis is well known and it is also known that it has an effect on the mortality and lung function of these patients. Our aim was to know nutritional status of a sample of pediatric cystic fibrosis patients. Patients and methods. Descriptive cross-sectional study.109 patients without pulmonary exacerbation, aged between5 and 18, were recruited in five national cystic fibrosis units. Were divided into 3 groups according body mass index: malnourished, normal and overweight. Statistical analysis: oneway ANOVA, Bonferroni Post-hoc tests. Results. The mean age was 12.65 ± 3.21 years, 47% were male. Fourteen patients (13%) were malnourished, 89 (82%)had normal nutritional status, and 6 patients (5%) were overweight. All groups had similar distribution by age, sex and CFTR mutation, although proportion of pancreatic sufficient (3/6, 50%) was higher in overweight patients (p=0.003). Mean weight, height and body mass index(expressed as Z score) were: -0.62 ± 0.78; -0.20 ± 1.18 and -0.32 ± 0.84 DS respectively. We don’t find differences in anthropometric data when we analyze by sex and age of the patients. Conclusions. Despite advances in treatment, a significant percentage of cystic fibrosis patients are malnourished. Moreover, current lifestyle and nutritional support, could lead in a small percentage of patients the appearance of overnutrition problems (AU)

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.

[Shwachman-Diamond syndrome. A case report]. / Síndrome de Shwachman-Diamond.

Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. We describe the clinical characteristics, laboratory data, and treatment in a 14-month-old boy diagnosed with this syndrome in our unit.

Síndrome de Shwachman-Diamond / Shwachman-Diamond syndrome

El síndrome de Shwachman-Diamond es una rara enfermedad autosómica recesiva caracterizada por insuficiencia pancreática exocrina, disfunción de la médula ósea, alteraciones esqueléticas y talla baja. En el artículo describimos las características clínicas, datos de laboratorio y tratamiento de un niño de 14 meses diagnosticado en nuestra consulta de dicho síndrome

Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. We describe the clinical characteristics, laboratory data, and treatment in a 14-month-old boy diagnosed with this syndrome in our unit