Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Avaliação antropométrica e sua associação com variáveis clínicas em pacientes pediátricos com fibrose cística de um centro no Nordeste brasileiro / Anthropometric assessment and its association with clinical variables in pediatric patients with cystic fibrosis from a center in the northeast of Brazil

Introdução: a avaliação e o acompanhamento nutricional fazem parte do cuidado integral dos pacientes com fibrose cística (FC), possibilitando intervenção precoce e tratamento mais efetivo da doença. Objetivo: avaliar o estado antropométrico de crianças e adolescentes com FC e pesquisar sua associação com variáveis clínicas e demográficas. Metodologia: estudo descritivo, incluindo-se indivíduos entre 1-19 anos de idade. Foram registradas medidas de peso, estatura, circunferência do braço (CB) e da prega cutânea tricipital (PCT) e calculados indicadores antropométricos (Peso/Idade- P/I, Altura idade -A/I e IMC/idade-IMC/I) e Circunferência Muscular do Braço (CMB). Comparou-se o indicador CMB com variáveis clínicas e demográficas através do cálculo de razões de prevalência (RP). Resultados: foram incluídos 41 pacientes, 53,6% do sexo masculino, mediana de idade de 78 meses. Quinze (36,6%) pacientes foram classificados como desnutridos pela avaliação da CMB (P15, TRE, mutação F508/del e A/I<-2, observando-se maior associação com as três últimas, RP de 6,25, 3,12; e 2,06; respectivamente. Conclusão: o IMC pode não ser suficiente para a avaliação do estado nutricional na FC, pois subestima a prevalência de desnutrição. Com exceção das infecções respiratórias recorrentes, as demais variáveis tiveram associação com o indicador CMB

Introduction: the assessment and nutritional follow-up are part of the comprehensive care of cystic fibrosis (CF) patients enabling an early intervention and a more effective disease treatment. Objective: to assess the anthropometric status of children and adolescents with cystic fibrosis (CF) and to investigate its association with clinical and demographic variables. Methodology: descriptive study, including individuals between 1-19 years of age. Weight, height, arm circumference (AC) and tricipital skinfold (TSF) measurements were recorded and anthropometric indicators were calculated (Weight/Age-W/A, Height age -H/A and BMI/age-BMI/A) and Muscle Circumference of the Arm (AMC). The AMC indicator was compared with clinical and demographic variables by calculating prevalence ratios (PR). Results: 41 patients were included, 53.6% male, median age 78 months. Fifteen (36.6%) patients were classified as malnourished by the AMC assessment ( P15, TRE, F508del variant and H/A <-2, with a greater association with the last three, PR of 6.25, 3.12; and 2.06; respectively. Conclusions: BMI may not be sufficient to assess nutritional status in CF since it underestimates the prevalence of malnutrition. Except for recurrent respiratory infections, the other variables were associated with the AMC indicator

TREATMENT ADHERENCE AMONG CHILDREN AND ADOLESCENTS IN A CYSTIC FIBROSIS REFERENCE CENTER.

OBJECTIVE: To evaluate the level of self-referenced treatment adherence (TA) and its association with clinical and sociodemographic variables in patients with cystic fibrosis assisted at a reference center, as well as compare the level of self-referenced TA with that presumed by the multidisciplinary team. METHODS: This is a cross-sectional study that included children and adolescents aged between 0-20 years with cystic fibrosis. Adolescents older than 14 years or their guardians, when younger than 14 years old, were interviewed using a standardized questionnaire. Professionals from the multidisciplinary clinic filled out another form with their impressions of the patients' TA. Clinical and laboratory data were obtained in the medical records. The TA was considered satisfactory if the total adherence index (TAI) was equal or higher than 80%. RESULTS: 53 patients were included with a median age of 112 months. The mean TAI was 83.2%. The mean TAIs for dornase alfa, pancreatic enzymes, continued use of inhaled tobramycin, vitamins supplements, nutritional supplements and dietary orientation was respectively: 86.1; 96.6; 78.6; 88.1; 51.8 and 78%. Children younger than 14 years presented better TA (p=0.021). The correlation between the self-referenced TA and the one presumed by the multidisciplinary team ranged from 0,117 to 0.402, being higher for Psychology and Nutrition professionals. CONCLUSIONS: The TAI was high particularly among children younger than 14 years. There was a positive correlation between the self-referenced TA and the one presumed by the Psychology (p=0.032) and the nutrition (p=0.012) professionals.

Treatment adherence among children and adolescents in a cystic fibrosis reference center / Adesão ao tratamento da fibrose cística entre crianças e adolescentes de um centro de referência

ABSTRACT Objective: To evaluate the level of self-referenced treatment adherence (TA) and its association with clinical and sociodemographic variables in patients with cystic fibrosis assisted at a reference center, as well as compare the level of self-referenced TA with that presumed by the multidisciplinary team. Methods: This is a cross-sectional study that included children and adolescents aged between 0-20 years with cystic fibrosis. Adolescents older than 14 years or their guardians, when younger than 14 years old, were interviewed using a standardized questionnaire. Professionals from the multidisciplinary clinic filled out another form with their impressions of the patients' TA. Clinical and laboratory data were obtained in the medical records. The TA was considered satisfactory if the total adherence index (TAI) was equal or higher than 80%. Results: 53 patients were included with a median age of 112 months. The mean TAI was 83.2%. The mean TAIs for dornase alfa, pancreatic enzymes, continued use of inhaled tobramycin, vitamins supplements, nutritional supplements and dietary orientation was respectively: 86.1; 96.6; 78.6; 88.1; 51.8 and 78%. Children younger than 14 years presented better TA (p=0.021). The correlation between the self-referenced TA and the one presumed by the multidisciplinary team ranged from 0,117 to 0.402, being higher for Psychology and Nutrition professionals. Conclusions: The TAI was high particularly among children younger than 14 years. There was a positive correlation between the self-referenced TA and the one presumed by the Psychology (p=0.032) and the nutrition (p=0.012) professionals.

RESUMO Objetivo: Avaliar o grau de adesão ao tratamento (AT) autorreferida e pesquisar sua associação com variáveis clínicas e sociodemográficas em pacientes com fibrose cística (FC) de um centro de referência e comparar o grau de AT autorreferida com o presumido pela equipe multidisciplinar. Métodos: Estudo transversal, incluindo crianças e adolescentes com FC entre zero e 20 anos. Foram realizadas entrevistas com os adolescentes maiores de 14 anos ou com os responsáveis dos mais jovens, utilizando-se formulário padronizado. Profissionais do centro preencheram outro formulário com suas impressões da AT dos pacientes. Registraram-se dados clínicos por meio da revisão de prontuários. A AT foi considerada satisfatória se o índice de adesão global (IAG) fosse igual ou superior a 80%. Resultados: Foram incluídos 53 pacientes, com mediana de idade de 112 meses. O IAG médio foi de 83,2%. Os índices de adesão à terapêutica (IAT) médios para alfadornase, enzimas pancreáticas, tobramicina inalatória de uso contínuo, suplementos vitamínicos, suplementos nutricionais e orientações dietéticas foram, respectivamente, 86,1; 96,6; 78,6; 88,1; 51,8 e 78%. Crianças com idade inferior a 14 anos apresentaram melhor AT (p=0,021). As correlações entre a AT autorreferida e a presumida pelos profissionais variaram de 0,117 a 0,402, sendo maiores para a psicologia e a nutrição. Conclusões: A taxa global de AT foi elevada, principalmente para menores de 14 anos. Houve correlação positiva entre a AT autorreferida e as avaliações da psicologia (p=0,032) e da nutrição (p=0,012).

Incidence and treatment of methicillin-resistant S. aureus infection in cystic fibrosis patients: a cohort study

Abstract In Brazil the knowledge about methicillin-resistant Staphylococcus aureus infection in cystic fibrosis patients is scarce. This study aimed to determine the incidence of respiratory tract colonization and the identification rates after a standardized treatment. A retrospective cohort was performed highlighting the history of respiratory colonizations between January 2008 and June 2015. Patients under the age of 21 years with cystic fibrosis confirmed by sweat test or genetic study receiving care at the outpatient clinics of a Teaching Hospital were included. The treatment consisted of trimethoprim/sulfamethoxazole, rifampicin, nasal mupirocin and chlorhexidine 2%. The mean follow-up period was of 22.2 months and those with ≥3 negative cultures were considered free of methicillin-resistant Staphylococcus aureus. Forty-two patients were included. Methicillin-resistant Staphylococcus aureus was identified in six patients. Most patients had methicillin-sensitive S. aureus isolation prior to methicillin-resistant Staphylococcus aureus. Five children used the standardized treatment, none presented side effects. Only one child had a new isolation of methicillin-resistant Staphylococcus aureus during follow-up (after 20 months). The incidence of methicillin-resistant Staphylococcus aureus infection was high and occurred in young patients. The therapeutic regimen was effective, safe and being a good option to treat methicillin-resistant Staphylococcus aureus infection.

Incidence and treatment of methicillin-resistant S. aureus infection in cystic fibrosis patients: a cohort study.

In Brazil the knowledge about methicillin-resistant Staphylococcus aureus infection in cystic fibrosis patients is scarce. This study aimed to determine the incidence of respiratory tract colonization and the identification rates after a standardized treatment. A retrospective cohort was performed highlighting the history of respiratory colonizations between January 2008 and June 2015. Patients under the age of 21 years with cystic fibrosis confirmed by sweat test or genetic study receiving care at the outpatient clinics of a Teaching Hospital were included. The treatment consisted of trimethoprim/sulfamethoxazole, rifampicin, nasal mupirocin and chlorhexidine 2%. The mean follow-up period was of 22.2 months and those with ≥3 negative cultures were considered free of methicillin-resistant Staphylococcus aureus. Forty-two patients were included. Methicillin-resistant Staphylococcus aureus was identified in six patients. Most patients had methicillin-sensitive S. aureus isolation prior to methicillin-resistant Staphylococcus aureus. Five children used the standardized treatment, none presented side effects. Only one child had a new isolation of methicillin-resistant Staphylococcus aureus during follow-up (after 20 months). The incidence of methicillin-resistant Staphylococcus aureus infection was high and occurred in young patients. The therapeutic regimen was effective, safe and being a good option to treat methicillin-resistant Staphylococcus aureus infection.