Chronic rhinosinusitis and endoscopic sinus surgery in children admitted for pulmonary exacerbations of cystic fibrosis.

OBJECTIVE: Non-surgical management of chronic rhinosinusitis (CRS) in children with cystic fibrosis (CF) has been increasing over the last decade. This study examines inpatient children with pulmonary exacerbation of CF who were also diagnosed with CRS and underwent endoscopic sinus surgery (ESS). STUDY DESIGN: We used the 2003 to 2016 Kids Inpatient Database to perform a cross-sectional analysis of inpatients (ages 0-21 years) diagnosed with CF and CRS in the United States from 2003 to 2016. Demographics and CF-associated comorbidities were recorded and rates of CRS and ESS in children with CF were examined. RESULTS: 49,110 children were included in the study. A total of 9334 (19%) were diagnosed with CRS. The average age was 13 (SD 5.9) years; the majority were female (56%), and White (67%). The prevalence of CRS increased from 2003 to 2016 (14%-23%, p < 0.001) while the rate of ESS decreased (20%-11%, p < .001). Patients with CRS that underwent ESS more commonly had CF-associated comorbidities including GI manifestations (15%-25%, p < .001) and liver disease (15%-30%, p < .001). CONCLUSION: The diagnosis of CRS in children with CF hospitalized for pulmonary exacerbation has increased while ESS has decreased in the last decade. Patients with CRS that underwent ESS more commonly had CF-associated comorbidities. Studies to determine whether children with CF-associated comorbidities are more likely to benefit from ESS are needed.

Cirrosis hepática y fibrosis quística en un paciente pediátrico / Hepatic cirrhosis and cystic fibrosis in pediatric patients

RESUMEN Fundamento: aunque la enfermedad hepática crónica como complicación de la fibrosis quística ha sido eclipsada por otros signos y síntomas más obvios a nivel respiratorio y pancreático, constituye la segunda causa de muerte en los pacientes con fibrosis quística. Objetivo: presentar el caso de una transicional de tres años con hepatomegalia y pruebas analíticas hepáticas alteradas como manifestaciones iniciales de la fibrosis quística. Caso clínico: paciente de tres años, femenina, con historia de distensión abdominal, hepatomegalia y desnutrición. Por esta sintomatología es remitida a la consulta de Gastroenterología. Conclusiones: se debe sospechar la fibrosis quística en pacientes pediátricos con hepatopatía crónica. Se observó mejoría clínica de las manifestaciones respiratorias y del estado nutricional, sin embargo, la hepatopatía evolucionó a la cirrosis hepática establecida.

ABSTRACT Background: although the chronic hepatic illness as complication of the cystic fibrosis has been eclipsed by other signs and more obvious symptoms at breathing and pancreatic level, is the second cause of death in the patients with cystic fibrosis. Objective: to present the case of a three year-old transitional one with hepatomegaly and hepatic analytic tests altered as initial manifestations of the cystic fibrosis. Clinical case: a three-year old, female patient with history of abdominal distension, hepatomegaly, and malnutrition. For this symptoms, she is remitted to the Gastroenterology consultation. Conclusions: the cystic fibrosis should be suspected in pediatric patient with chronic hepatic diseases. Clinical improvement of the breathing manifestations was observed and of the nutritional state, however the chronic hepatic disease evolved to the established hepatic cirrhosis.

Brazilian guidelines for the diagnosis and treatment of cystic fibrosis / Diretrizes brasileiras de diagnóstico e tratamento da fibrose cística

ABSTRACT Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening program for CF has broad coverage, and most of the Brazilian states have referral centers for the follow-up of individuals with the disease. Previously, CF was limited to the pediatric age group. However, an increase in the number of adult CF patients has been observed, because of the greater number of individuals being diagnosed with atypical forms (with milder phenotypic expression) and because of the increase in life expectancy provided by the new treatments. However, there is still great heterogeneity among the different regions of Brazil in terms of the access of CF patients to diagnostic and therapeutic methods. The objective of these guidelines was to aggregate the main scientific evidence to guide the management of these patients. A group of 18 CF specialists devised 82 relevant clinical questions, divided into five categories: characteristics of a referral center; diagnosis; treatment of respiratory disease; gastrointestinal and nutritional treatment; and other aspects. Various professionals working in the area of CF in Brazil were invited to answer the questions devised by the coordinators. We used the PubMed database to search the available literature based on keywords, in order to find the best answers to these questions.

RESUMO A fibrose cística (FC) é uma doença genética autossômica recessiva caracterizada pela disfunção do gene CFTR. Trata-se de uma doença multissistêmica que ocorre mais frequentemente em populações descendentes de caucasianos. Nas últimas décadas, diversos avanços no diagnóstico e tratamento da FC mudaram drasticamente o cenário dessa doença, com aumento expressivo da sobrevida e qualidade de vida. Atualmente, o Brasil dispõe de um programa de ampla cobertura para a triagem neonatal de FC e centros de referência distribuídos na maior parte desses estados para seguimento dos indivíduos. Antigamente confinada à faixa etária pediátrica, tem-se observado um aumento de pacientes adultos com FC tanto pelo maior número de diagnósticos de formas atípicas, de expressão fenotípica mais leve, assim como pelo aumento da expectativa de vida com os novos tratamentos. Entretanto, ainda se observa uma grande heterogeneidade no acesso aos métodos diagnósticos e terapêuticos para FC entre as diferentes regiões brasileiras. O objetivo dessas diretrizes foi reunir as principais evidências científicas que norteiam o manejo desses pacientes. Um grupo de 18 especialistas em FC elaborou 82 perguntas clínicas relevantes que foram divididas em cinco categorias: características de um centro de referência; diagnóstico; tratamento da doença respiratória; tratamento gastrointestinal e nutricional; e outros aspectos. Diversos profissionais brasileiros atuantes na área da FC foram convidados a responder as perguntas formuladas pelos coordenadores. A literatura disponível foi pesquisada na base de dados PubMed com palavras-chave, buscando-se as melhores respostas às perguntas dos autores.

[Factors impacting the growth and nutritional status of cystic fibrosis patients younger than 10 years of age who did not undergo neonatal screening]. / Fatores que afetam o crescimento e estado nutricional de pacientes com fibrose cística com idade inferior a 10 anos e que não foram submetidos à triagem neonatal.

OBJECTIVE: The aim of this study was to evaluate by clinical and laboratory parameters how cystic fibrosis (CF) affects growth and nutritional status of children who were undergoing CF treatment but did not receive newborn screening. METHODS: A historical cohort study of 52 CF patients younger than 10 years of age were followed in a reference center in Campinas, Southeast Brazil. Anthropometric measurements were abstracted from medical records until March/2010, when neonatal screening program was implemented. Between September/2009 and March/2010, parental height of the 52 CF patients were also measured. RESULTS: Regarding nutritional status, four patients had Z-scores ≤ -2 for height/age (H/A) and body mass index/age (BMI/A). The following variables were associated with improved H/A ratio: fewer hospitalizations, longer time from first appointment to diagnosis, longer time from birth to diagnosis and later onset of respiratory disease. Forced vital capacity [FVC(%)], forced expiratory flow between 25-75% of FVC [FEF25-75(%)], forced expiratory volume in the first second [FEV1(%)], gestational age, birth weight and early respiratory symptoms were associated with IMC/A. CONCLUSIONS: Greater number of hospitalizations, diagnosis delay and early onset of respiratory disease had a negative impact on growth. Lower spirometric values, lower gestational age, lower birth weight, and early onset of respiratory symptoms had negative impact on nutritional status. Malnutrition was observed in 7.7% of cases, but 23% of children had nutritional risk.