Hipoparatiroidismo por mutación en el gen del sensor—receptor del calcio (CASR). Aportación de dos nuevos casos / Hypoparathyroidism due to mutation in the calcium sensing receptor (CASR) gene. Presentation of two new cases

El hipoparatiroidismo secundario a mutaciones activadoras en el gen que codifica el sensor receptor del calcio, denominado hipocalcemia autosómica dominante, se caracteriza por hipercalciuria relativa. El tratamiento con calcio y vitamina D conlleva un alto riesgo de nefrocalcinosis, por ello es importante estudiar el gen del sensor receptor del calcio en pacientes con hipoparatiroidismo idiopático. Presentamos dos casos clínicos, uno de ellos con una mutación no descrita previamente (AU)

Hypoparathyroidism secondary to activating mutations in the gene encoding the calcium receptor sensor, termed autosomal dominant hypocalcemia, is characterized by relative hypercalciuria. Treatment with calcium and vitamin D carries a high risk of nephrocalcinosis, so it is important to study the gene of the calcium receptor sensor in patients with idiopathic hypoparathyroidism. We present two clinical cases, one of them with a mutation not previously described (AU)

[Nutritional intervention in children and adolescents with cystic fibrosis. Relationship with pulmonary function]. / Intervención nutricional en niños y adolescentes con fibrosis quística. Relación con la función pulmonar.

OBJECTIVE: To assess the effects of early and continuous nutritional intervention in pediatric patients with cystic fibrosis (CF) and its possible implication in pulmonary function. PATIENTS AND METHODS: Included is the follow-up of 19 patients with CF (11 female and 8 male children), from 17 months to 18 years of age, and a mean disease duration of 10 years. Genotype from 16 patients is delta F 508 (10 homozygotic, 6 heterozygotic). The following items have been performed every 2-3 months: clinical, dietary and anthropometrical assessment, classifying nutritional status (NS) by Z scores of weight/height, % of weight to height, body mass index, and Z scores of height/age. Concurrently, respiratory secretions culture and spirometry were obtained; and annually, biochemistry, hematologic and feces determinations. Nutritional intervention included: dietary recommendations, oral or invasive enteral nutrition (EN) and pharmacologic treatment with pancreatic enzymes, fat-soluble vitamins, minerals and oligoelements. RESULTS AND COMMENTARIES: Most of them experienced anthropometrical improvement being significant for weight, the relationship of weight/height and the tricipital fold (p < 0.05). The Z score for height has remained steady. Sixteen patients (84%) have developed exocrine pancreatic failure, and 3 (16%) glucose intolerance. Fourteen (73%) have been colonized by Pseudomonas aeruginosa. Last mean spirometry values were: FVC (%) 85.4 +/- 18.6 and FEV1 (%) 85.9 +/- 24.1, with a significant correlation between % of weight to height and FVC (coefficient 0.552, p = 0.022) and FEV1 (coefficient 0.625, p = 0.007). Seventy nine percent have required some sort of nutritional support: 3 cases (16%) invasive EN, and the remaining oral EN. CONCLUSIONS: Without nutritional support, many patients with CF do not seem to meet their demands. EN monitoring allows for and early and effective intervention. A close correlation has been demonstrated between nutritional status and pulmonary function.

Intervención nutricional en niños y adolescentes con fibrosis quística. Relación con la función pulmonar / Nutritional intervention in children and adolescents with cystic fibrosis. Relationship with pulmonary function

Objetivo: Evaluar los efectos de la intervención nutricional precoz y continuada en pacientes pediátricos con fibrosis quística (FQ) y su posible implicación en la función pulmonar. Pacientes y métodos: Se incluyen el seguimiento de 19 pacientes con FQ (11 niñas, 8 niños) de 17 meses a 18 años de edad y promedio de 10 años de enfermedad. El genotipo de 16 pacientes es delta F 508 (10 homo, 6 heterocigotos). Cada 2-3 meses se les ha realizado: valoración clínica, dietética y antropométrica clasificando el estado de nutrición (EN) según Z pesto/talla, % peso para la talla, índice de masa corporal y Z talla/edad. Coincidentemente se obtuvo cultivo de secreciones respiratorias y espirometría; y anualmente determinaciones bioquímicas, hematológicas y de heces. La intervención nutricional incluyó: recomendaciones dietéticas, nutrición enteral (NE) oral o invasiva y tratamiento farmacológico con enzimas pancreáticos, vitaminas liposolubles, minerales y oligoelementos. Resultados y comentarios: La mayoría experimentaron mejoría antropométrica resultando significativa para el peso, relación peso/talla y pliegue tricipital (p < 0,05). La puntuación Z se ha mantenido estable. Dieciséis pacientes (84%) han desarrollado insuficiencia pancreática exocrina y 3 (16%) intolerancia a la glucosa. Catorce (73%) se han colonizado por Pseudomonas aeuroginosa. Los valores promedio de la última espirometría fueron: FVC (%) 85,4 ± 18,6 y FEV1 (%) 85,9 ± 24,1 encontrándose una correlación positiva significativa entre el % del peso para la talla y FVC (coef 0,552, p = 0,022) y con FEV1 (coef. 0,625; p = 0,007). El 79% han requerido algún tipo de apoyo nutritional: 3 casos (16%) NE invasiva y el resto tratamiento con NE oral. Conclusiones: Sin soporte nutricional muchos pacientes con FQ no parecen cubrir su requerimientos. La monitorización del EN permite la actuación precoz y efectiva. Se demuestra una correlación estrecha entre el estado de nutrición y la función pulmonar (AU)

Objective: To assess the effects of early and continuous nutritional intervention in pediatric patients with cystic fibrosis (CF) and its possible implication in pulmonary function. Patients and methods:Included is the follow-up of 19 patients with CF (11 female and 8 male children), from 17 months to 18 years of age, and a mean disease duration of 10 years. Genotype from 16 patients is delta F 508 (10 homozygotic, 6 heterozygotic). The following items have been performed every 2-3 months: clinical, dietary and anthropometrical assessment, classifying nutritional status (NS) by Z scores of weight/height, % of weight to height, body mass index, and Z scores of height/age. Concurrently, respiratory secretions culture and spirometry were obtained; and annually, biochemistry, hematologic and feces determinations. Nutritional intervention included: dietary recommendations, oral or invasive enteral nutrition (EN) and pharmacologic treatment with pancreatic enzymes, fat-soluble vitamins, minerals and oligoelements. Results and commentaries: Most of them experienced anthropometrical improvement being significant for weight, the relationship of weight/height and the tricipital fold (p < 0.05). The Z score for height has remained steady. Sixteen patients (84%) have developed exocrine pancreatic failure, and 3 (16%) glucose intolerance. Fourteen (73%) have been colonized by Pseudomonas aeruginosa. Last mean spirometry values were: FVC (%) 85.4 ± 18.6 and FEV1 (%) 85.9 ± 24.1, with a significant correlation between % of weight to height and FVC (coefficient 0.552, p = 0.022) and FEV1 (coefficient 0.625, p = 0.007). Seventy nine percent have required some sort of nutritional support: 3 cases (16%) invasive EN, and the remaining oral EN. Conclusions: Without nutritional support, many patients with CF do not seem to meet their demands. EN monitoring allows for and early and effective intervention. A close correlation has been demonstrated between nutritional status and pulmonary function (AU)