Pesquisa neonatal en fibrosis quística: un modelo de coordinación multidisciplinaria. ha llegado la hora de los centros de fibrosis quística / Cystic fibrosis screening: amultidisciplinary coordinationapproach. the time for cysticfibrosis centers has arrived

Introducción. La pesquisa neonatal para fibrosis quística ha demostrado su utilidad en el diagnóstico precoz con mejoría en nutrición, función pulmonar y cognición. Se coordinaron dos centros para la medición de los valores de TIR y diagnóstico de fibrosis quística, usando un algoritmo tradicional y uno adaptado para mejorar resultados previos sin coordinación. Método. Se presentan datos del período pre-coordinación donde no hubo diagnósticos de FQ a partir de TIR. Se detallan datos del período coordinado, que aun no siendo cronológica ni numéricamente igual al anterior, muestran resultados totalmente distintos. Para TIR se utilizó DELFIA y para test de sudor iontoforesis por pilocarpina. Resultados. Período pre-coordinación entre centros (enero de 2005 a febrero de 2010): se realizaron 18.732 determinaciones de TIR. 74 fueron TIR (+). No hubo diagnósticos de FQ por problemas de seguimiento. Período coordinado: desde el 1° de marzo de 2010 hasta el 31 de diciembre de 2011. Se realizaron 41.142 determinaciones de TIR. Se encontró TIR elevado en la 1ª muestra en 91 niños (0,22%). Se diagnosticaron 4 fibroquísticos por medio de los algoritmos presentados. Conclusiones. En 71 RN seguidos efectivamente con TIR positivo, se diagnosticaron 4 FQ en el período coordinado. Disminuyó la edad media al diagnóstico de 4,54 años a 2,5 meses (aún pocos casos) y la cantidad de perdidos al seguimiento bajó de 36,95 % a 15,90%. Estas cifras sugieren un resultado positivo producto de la integración y centralización de los sistemas como lo cita toda la literatura.

Introduction. Neonatal screening in cystic fibrosis has shown to be an important tool for early diagnosis, better nutrition, diminished lung function and cognitive development. Our laboratory and CF Center were coordinated for IRT screening and diagnosis. We used a standard and a modified algorithm to improve previous results of an uncoordinated period. Method. IRT-IRT-sweat test algorithms was implemented using Dissociation-Enhanced Lanthanide Fluroimmunoassay (DELFIA) for IRT, and pilocarpine iontophoresis for sweat test. Pre-coordination period data are also presented (January 2005 - February 2010) when follow up was difficult .Details for the coordinated period are presented although no statistical comparisons are intended since the number of patients and time-periods studied were completely different. Results. a) pre-coordination period: 18,732 IRT measurements were done. 74 positive IRT tests were detected. No CF diagnosis was made by IRT screening due to problems with follow-up. Only 3 CF patients were diagnosed by genetic studies requested only due to clinical symptoms. b) Coordinated period (March 2010 to December 2011): 41,142 IRT samples were analized. 91 positive first sample IRT detected (0.22%). 71 patients remained for effective follow-up. Four CF diagnosis were made by the algorithm IRT screening-sweat test. Conclusions. In 71 remaining patients after first IRT positive result, CF was diagnosed in four patients. Mean age of diagnosis diminished from 4.54 years to 2.5 months although numbers are small for definitive conclusions. These figures suggest that positive results are the result of coordination and centralization in the CF Center as suggested by many references.

Neonatal screening for cystic fibrosis in São Paulo State, Brazil: a pilot study

Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian population, with an incidence of 1:2000 to 1:3500 liveborns. More than 1000 mutations have been described with the most common being F508del. It has a prevalence of 23-55 percent within the Brazilian population. The lack of population-based studies evaluating the incidence of cystic fibrosis in São Paulo State, Brazil, and an analysis concerning the costs of implantation of a screening program motivated the present study. A total of 60,000 dried blood samples from Guthrie cards obtained from April 2005 to January 2006 for neonatal screening at 4 reference centers in São Paulo State were analyzed. The immunoreactive trypsinogen (IRT)/IRT protocol was used with the cut-off value being 70 ng/mL. A total of 532 children (0.9 percent) showed IRT >70 ng/mL and a 2nd sample was collected from 418 (80.3 percent) of these patients. Four affected children were detected at two centers, corresponding to an incidence of 1:8403. The average age at diagnosis was 69 days, and 3 of the children already showed severe symptoms of the disease. The rate of false-positive results was 95.2 percent and the positive predictive value for the test was 8 percent. The cost of detecting an affected subject was approximately US$8,000.00 when this cystic fibrosis program was added to an existing neonatal screening program. The present study clearly shows the difficulties involved in cystic fibrosis screening using the IRT/IRT protocol, particularly in a population with no long-term tradition of neonatal screening.

Tripsinógeno catiónico sérico: indicador de disfunción pancreática exocrina en niños con malnutrición proteico-calórica / Serum cationic trypsinogen: marker of exocrine pancreatic disfunction in children with protein-caloric malnutrition

El Tripsinógeno catiónico sérico un método sensible, no invasivo para evaluar la función pancreática exocrina fue determinado por radioinmuno ensayo en 31 niños con diferentes grados de malnutrición proteino-calórica (leve, moderada y grave) en quienes sus valores medios de albúmina sérica fueron 3,7 ñ 0,7 g%; 3,1 ñ 0,9 g%; 2,3 ñ 0,4 g%, respectivamente y en un grupo control de 20 niños bien nutridos con albúmina sérica media de 3,9 ñ 0,7 g%. Los niveles medios de Tripsinógeno estuvieron significativamente elevados en los niños con malnutrición (leve: 28,5 ñ 2,4 ng/ml, moderada: 31,86 ñ 3,4 ng/ml y severa: 36,52 ñ 7,8 ng/ml) comparados con los valores medios en el grupo control (17,7 ñ 2 ng/ml) (p < 0,001). Nosotros concluímos que nuestros resultados sugieren la evidencia de daño pancreático en niños malnutridos y esta disfunción es mayor con el grado de malnutrición, permitiendo ser detectada con este simple método aun cuando el paciente no presente esteatorrea cualitativa