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1.
Rev Infirm ; 69(257): 19, 2020 Jan.
Artigo em Francês | MEDLINE | ID: mdl-32146957

RESUMO

Cystic fibrosis, a rare, hereditary and chronic disease, affects the psychic functioning of children and their families. Since it is incurable, constant adjustments are essential to make sense of the inevitable evolution of the disease. The psychologists support the families and the patients so that all live as well as possible with cystic fibrosis.


Assuntos
Fibrose Cística/psicologia , Família/psicologia , Relações Profissional-Família , Apoio Social , Fibrose Cística/diagnóstico , Humanos
3.
Arch. bronconeumol. (Ed. impr.) ; 55(11): 559-564, nov. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-186323

RESUMO

Introducción: En los últimos años se observa un aumento de la prevalencia de colonización e infección por Scedosporium spp. en pacientes con fibrosis quística (FQ). En el presente estudio se registra la frecuencia de aislamiento de Scedosporium spp. en una Unidad de FQ de adultos, analizándose las características de los pacientes y los factores predisponentes. Métodos: Se realizó un estudio observacional retrospectivo en 87 pacientes adultos con FQ en los que se valoró la presencia de cultivo positivo para Scedosporium spp. durante 5 años (enero de 2012-julio de 2017). Se recogieron las siguientes variables clínicas: edad, sexo, índice de masa corporal, genotipo, presencia de insuficiencia pancreática, colonizaciones bacterianas, función pulmonar, complicaciones, exacerbaciones y tratamiento, así como puntuación Bhalla modificada de la última tomografía computarizada axial de alta resolución. Los resultados se analizaron con el paquete estadístico IBM SPSS Statistics Version 22.0. Resultados: En un 25,3% de los pacientes se aisló Scedosporium spp. En el análisis bivariante se observó en estos enfermos más frecuencia de Pseudomonas aeruginosa, peor puntuación en la clasificación de Bhalla (destacando los ítems presencia de bronquiectasias, tapones mucosos y generaciones bronquiales), un descenso leve en la capacidad de difusión pulmonar (DLCO) y que recibían con más frecuencia antibioterapia inhalada. En el análisis multivariante de regresión logística únicamente el ítem generaciones bronquiales fue significativo. Conclusiones: Scedosporium spp. debe considerarse un patógeno oportunista emergente en pacientes con FQ del que se desconoce su implicación clínica, factores de riesgo o necesidad de tratamiento


Introduction: In recent years an increase in the prevalence of colonization and infection by Scedosporium spp. in patients with cystic fibrosis (CF) has been observed. In this article, we study the frequency of isolation of Scedosporium spp. in an adult CF Unit, analyzing characteristics of the patients and predisposing factors. Methods: A retrospective observational study was conducted in 87 adult CF patients in whom the presence of positive culture for Scedosporium spp. was tested for a 5-year period (January 2012-July 2017). We recorded the following clinical variables: age, sex, body mass index, genotype, presence of pancreatic insufficiency, bacterial colonization, lung function, other complications, exacerbations and treatment, and the modified Bhalla score from the last high-resolution computed tomography. Results were analyzed with IBM SPSS Statistics Version 22.0 software. Results: Scedosporium spp. was isolated in 25.3% of patients. In the bivariate analysis, these patients showed a higher rate of Pseudomonas aeruginosa infection, worse score in the Bhalla classification (highlighting the following items: bronchiectasis, mucus plugs and bronchial generations), a slight decrease in the lung diffusion capacity and more frequently received inhaled antibiotics. In the logistic regression multivariate analysis, only the bronchial generations item was significant. Conclusion: Scedosporium spp. must be considered an emerging opportunistic pathogen in patients with CF whose clinical involvement, risk factors or need for treatment is unknown


Assuntos
Humanos , Masculino , Feminino , Adulto , Fibrose Cística/diagnóstico , Scedosporium/isolamento & purificação , Estudos de Coortes , Pneumopatias Fúngicas/diagnóstico , Estudos Retrospectivos , Índice de Massa Corporal , Recidiva , Tomografia Computadorizada de Emissão , Bronquiectasia/complicações , Capacidade de Difusão Pulmonar , Fatores de Risco
4.
Turk J Pediatr ; 61(1): 20-25, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31559717

RESUMO

Güney E, Emiralioglu N, Cinel G, Yalçin E, Dogru D, Kiper N, Özçelik HU. Nasal nitric oxide levels in primary ciliary dyskinesia, cystic fibrosis and healthy children. Turk J Pediatr 2019; 61: 20-25. Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterized by recurrent respiratory tract infections. The measurement of nasal nitric oxide (nNO) is an important test for the diagnosis of PCD. In this study, we aim to evaluate NIOX-MINOÒ, which is an easily applicable method for measuring nNO, in the diagnosis of patients with PCD and define diagnostic cut-off levels. Furthermore, determining the normal limits of nNO in healthy children and investigating nNO levels of children with cystic fibrosis (CF) are the other aims of this study. The children included in this study were 5 to 18.5 years old, 46 of them had PCD, 44 had CF and 200 were healthy children. To our knowledge, this work contains the widest population compared to previous studies. Subjects receiving steroids or antibiotics or those with any acute respiratory tract infection, asthma or allergic rhinitis were not included in the study. Mean nNO levels were found as 10.4, 22.8 and 21.0 ppb in PCD, CF and healthy children, respectively. The nNO levels for PCD patients were found significantly lower than children with CF and the control groups (p < 0.05). In this study, the diagnostic nNO cut-off level between PCD and the other two groups was determined to be < 11.5 ppb with %83.6 specificity and %67.4 sensitivity. The screening of nNO with NIOX-MINO method provides early diagnose before mucosal biopsy of patients who are suspected to have PCD and therefore, prevents co-morbidities and prolongs survival with early treatment.


Assuntos
Fibrose Cística/diagnóstico , Síndrome de Kartagener/diagnóstico , Óxido Nítrico/metabolismo , Adolescente , Biomarcadores/metabolismo , Testes Respiratórios , Estudos de Casos e Controles , Criança , Pré-Escolar , Fibrose Cística/metabolismo , Feminino , Humanos , Síndrome de Kartagener/metabolismo , Masculino , Nariz , Sensibilidade e Especificidade
5.
Turk J Pediatr ; 61(1): 134-138, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31559736

RESUMO

Sag E, Kamasak T, Kaya G, Çakir M. A rare clinical association: Barth syndrome and cystic fibrosis. Turk J Pediatr 2019; 61: 134-138. Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II. Cystic fibrosis is a common autosomal recessive genetic disorder in Caucasians. Herein, we reported a rare clinical association in an infant diagnosed based on clinical and genetic analysis. A six-month old boy admitted with chronic steatorrhea. The diagnosis of cystic fibrosis was made after clinical and laboratory examinations. Fifteen days later, the patient was presented with restlessness and moaning. He had hypoglycemia and lactic acidosis. The patient died three hours after the admission. Pedigree analysis revealed similar sudden infant deaths in close relatives. Postmortem genetic analysis revealed the diagnosis of Barth syndrome. This is the first case of the association of Barth syndrome with cystic fibrosis. Our case reinforces the importance of pedigree analysis and postmortem examinations.


Assuntos
Síndrome de Barth/diagnóstico , Síndrome de Barth/genética , Fibrose Cística/diagnóstico , Mutação , Fatores de Transcrição/genética , Acidose Láctica/etiologia , Evolução Fatal , Humanos , Hipoglicemia/etiologia , Lactente , Masculino , Linhagem , Esteatorreia/etiologia
6.
Epidemiol Prev ; 43(4S1): 1-36, 2019.
Artigo em Italiano | MEDLINE | ID: mdl-31370382

RESUMO

INTRODUCTION: On the 27th of October 2017 the National Center for Rare Diseases of the Italian National Health Institute (NHI), clinicians of the Italian National Referral and Support Centres for Cystic Fibrosis, Paediatric Hospital "Bambino Gesù", Italian Cystic Fibrosis Society, and the Italian League for Cystic Fibrosis renewed the agreement about FC data flow for a 3 years period. The possibility to access data by third parties is among the most important new introduced within the agreement. OBJECTIVES: Aim of the present report is to improve the know-how on cystic fibrosis (CF) through a better characterization of Italian patients. Furthermore, the present Report aims at improving the care of CF patient. In particular, the Report should contribute to the following objectives: * to analize medium- and long-term clinical and epidemiological trends of the disesase; * to identify the main health care needs at regional and national level in order to contribute to the healthcare programmes and to the distribution of resources; * to compare Italian data with international ones. DESIGN: Analyses and results described in the present Report are referred to patients in charge to the Italian National Referral and Support Centers for Cystic Fibrosis in the period 2015-2016. Data were sent by Centres by means of a specific software (Camilla, Ibis Informatica). Data underwent to a double quality control (QC): the first by NHI and the second at a European level (before the inclusion of the italian data within the European Cystic Fibrosis Registry). These QCs assure the completeness and the accuracy of data as well as their consistency with European core data. Finally, in 2017, an additional CQ was performed to further reduce the number of missing data and consequently improve the precision and the consistency in the nomenclature adopted for genetic mutations. SETTING AND PARTICIPANTS: A total of 29 different CF Centres (referral, support, and Paediatric Hospital "Bambino Gesù") sent their data referred to 2015-2016 years to ICFR . Data regarding Sardinia (Southern Italy) are missing and those from Treviso (Veneto Region, Northern Italy) and Rovereto (Trentino-Alto Adige Region, Northern Italy) are sent through Verona CF Centre. RESULTS: The present Report has been organized into 10 sections. 1. Demography: estimated CF patients is 5,204 in 2015 and 5,362 in 2016; median age is 20.6 and 21.0, respectively. Prevalence is 8.6/100,000 residents in Italy in 2015 and 8.8 in 2016. Male percentage is 51.6% on average for 2015 and 2016; CF distribution showed higher frequency in patients aged from 7 to 35 years. The mean of patients aged more than 18 years is 56.5% on average in 2015 and 2016. 2. Diagnoses: most of the CF patients were diagnosed before 2 years of age (median value: 68%); a significant percentage of patients (median value: 13%) was diagnosed in adult age. 3. New diagnoses: new diagnoses were 169 in 2015 and 153 in 2016. Estimated incidence in 2015 was 1/4,176 living births in 2015 and 1/5,510 in 2016. 4. Genetics: 99.5% of patients underwent genetic analyses and in 96% of patients a mutation in Cystic Fibrosis Transmembrane Regulator (CFTR) gene was identified. [delta]508F was the most frequent mutation (44,7% in 2016). Furthermore, 16.0% and 3.4% of patients was characterized by the presence of at least one "residual function" mutation and gating, respectively. Finally, 21% of patients was a stop codons (class 1 mutation) carrier. 5. Lung function: FEV1 (forced expiratory volume in the first second) scores progressively decreased before adult age, in accordance with the natural history of the disease. FEV1% values in patients between 6 and 17 years of age is ≥70%; patients with a FEV1% value of 40% are less than 2% in the period 2015-2016. 6. Nutrition: most critical periods are during the first 6 months of life and during adolescence. Prevalence of malnourished male aged 12-17 years is constant in 2015-2016 and is always more than the prevalence observed in female. An increasing percentage of female patient with a suboptimal BMI value (35.5%) is observed among patients aged more than 18 years 7. COMPLICATIONS: it was estimated that, in 2016, hepatopathies without cirrhosis (17.7%) is the principal complications in patients aged less than 18 years; in patients aged more than 18 years the principal complication was due to hepatopathies without cirrhosis (29.5%) and diabetes (23.3%). 8. Transplantation: in 2015-2016, 74 patients were bipulmunary transplanted; age was comprised between 8 and 52 years, median age at transplantation was 29,6 years. Median waiting times for transplantation is estimated in 17 months (24 months in 2015 and 14 months in 2016). 9. Microbiology: analyses were referred to test performed in 2016. Percentage of adult patients with chronic Pseudomonas aeruginosa infection is 52.1% compared to 15.2% of paediatric patients; Staphylococcus aureus infection is present in 53.2% of adult patients and 52.8% of paediatric ones; Burkholderia Cepacia complex is present almost exclusively in adult patients (4.3%); Nontuberculous mycobacteria is present in 1.2% and 0.4% of adult and paediatric patients, respectively; Stenotrophomonas maltophilia infection is present in the 6.1% of adult patients and 4.9 of paediatric patients. 10. Mortality: 102 patients (49 males and 53 females; median age 36.9 years in 2015 and 36.5 in 2016) died in 2015-2016 (transplanted patients are not included). CONCLUSIONS: The present Report shows that Italian CF population is growing (median age) and paediatric mortality is decreasing. A very low percentage of paediatric population is characterized by complication of pulmonary function; adult patients are characterized by an increase of age at death (more than 36 years of age in 2016).


Assuntos
Fibrose Cística , Sistema de Registros , Adulto , Criança , Terapia Combinada , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Fibrose Cística/terapia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Insuficiência Pancreática Exócrina/etiologia , Feminino , Humanos , Itália/epidemiologia , Pulmão/microbiologia , Pulmão/fisiopatologia , Transplante de Pulmão , Masculino , Desnutrição/etiologia , Desnutrição/prevenção & controle , Apoio Nutricional
8.
Anal Chim Acta ; 1080: 138-145, 2019 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-31409463

RESUMO

The test of sweat chloride is routinely performed as a worldwide newborn screening (NBS) to the diagnosis of cystic fibrosis (CF) in infants. However, the available methods for measurement of chloride in sweat suffer from such limitations as either low selectivity and/or requiring relatively large sample size. In this work, we have designed an analytical ruler that can measure chloride ion in sweat and hence can be used for the diagnosis of cystic fibrosis. This micro-pad (µ-PAD) device is fabricated by making hydrophilic micro-channel on a filter paper impregnated with silver dichromate. After addition of chloride ion-containing sweat sample, it moves through the channel, leading to the formation of an AgCl sediment, which deposits as a white color stain, the length of which in the channel being proportional to the amount of chloride ion in sweat. A well-defined linear relation was observed between the length of white color stain and the concentration of chloride ion in the sample solutions with a relative standard deviation of 3.6% (n = 3) for an artificial sweat sample containing 100 mM chloride ion. The possible interfering effects of several different cations and anions on the detection of chloride ion were investigated and the results well-confirmed the selectivity of the proposed method. With the use of only 2.0 µL of the sample solution, the µPAD was able to measure the chloride content of sweat over a concentration range of 20.0-100.0 mM, which covers both the healthy range (˂ 40 mM) and the risky range (˃60 mM) of chloride ion. Analysis of chloride content of sweat samples by the µPAD agreed well with those obtained by a standard electrochemical method (with relative errors of lower than 10%).


Assuntos
Calorimetria/métodos , Cloretos/análise , Fibrose Cística/diagnóstico , Papel , Suor/química , Calorimetria/instrumentação , Cloretos/química , Cromatos/química , Humanos , Recém-Nascido , Limite de Detecção , Compostos de Potássio/química , Nitrato de Prata/química
9.
Nutrients ; 11(8)2019 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-31412557

RESUMO

Vitamin A is a fundamental micronutrient that regulates various cellular patterns. Vitamin A deficiency (VAT) is a worldwide problem and the primary cause of nocturnal blindness especially in low income countries. Cystic fibrosis (CF) is a known risk factor of VAD because of liposoluble vitamin malabsorption due to pancreatic insufficiency. We describe a case of a 9-year-old girl who experienced recurrent episodes of nocturnal blindness due to profound VAD. This little girl is paradigmatic for the explanation of the key role of the gut-liver axis in vitamin A metabolism. She presents with meconium ileus at birth, requiring intestinal resection that led to a transient intestinal failure with parenteral nutrition need. In addition, she suffered from cholestatic liver disease due to CF and intestinal failure-associated liver disease. The interaction of pancreatic function, intestinal absorption and liver storage is fundamental for the correct metabolism of vitamin A.


Assuntos
Fibrose Cística/complicações , Absorção Intestinal , Cegueira Noturna/etiologia , Visão Noturna , Síndrome do Intestino Curto/complicações , Deficiência de Vitamina A/etiologia , Criança , Fibrose Cística/diagnóstico , Suplementos Nutricionais , Feminino , Humanos , Cegueira Noturna/diagnóstico , Cegueira Noturna/fisiopatologia , Cegueira Noturna/terapia , Estado Nutricional , Nutrição Parenteral no Domicílio , Recidiva , Síndrome do Intestino Curto/diagnóstico , Síndrome do Intestino Curto/fisiopatologia , Síndrome do Intestino Curto/terapia , Resultado do Tratamento , Vitamina A/administração & dosagem , Vitamina A/metabolismo , Deficiência de Vitamina A/diagnóstico , Deficiência de Vitamina A/fisiopatologia , Deficiência de Vitamina A/terapia
10.
Eur Respir Rev ; 28(152)2019 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-31285289

RESUMO

The lungs of patients with cystic fibrosis (CF) are colonised by a microbial community comprised of pathogenic species, such as Pseudomonas aeruginosa and Staphylococcus aureus, and microorganisms that are typically not associated with worse clinical outcomes (considered as commensals). Antibiotics directed at CF pathogens are often not effective and a discrepancy is observed between activity of these agents in vitro and in the patient. This review describes how interspecies interactions within the lung microbiome might influence the outcome of antibiotic treatment targeted at common CF pathogens. Protective mechanisms by members of the microbiome such as antibiotic degradation (indirect pathogenicity), alterations of the cell wall, production of matrix components decreasing antibiotic penetration, and changes in metabolism are discussed. Interspecies interactions that increase bacterial susceptibility are also addressed. Furthermore, we discuss how experimental conditions, such as culture media, oxygen levels, incorporation of host-pathogen interactions, and microbial community composition may influence the outcome of microbial interaction studies related to antibiotic activity. Hereby, the importance to create in vitro conditions reflective of the CF lung microenvironment is highlighted. Understanding the role of the CF lung microbiome in antibiotic efficacy may help find novel therapeutic and diagnostic approaches to better tackle chronic lung infections in this patient population.


Assuntos
Antibacterianos/uso terapêutico , Bactérias/efeitos dos fármacos , Fibrose Cística/tratamento farmacológico , Pulmão/efeitos dos fármacos , Microbiota/efeitos dos fármacos , Infecções Respiratórias/tratamento farmacológico , Animais , Bactérias/patogenicidade , Tomada de Decisão Clínica , Fibrose Cística/diagnóstico , Fibrose Cística/microbiologia , Farmacorresistência Bacteriana , Humanos , Pulmão/microbiologia , Testes de Sensibilidade Microbiana , Infecções Respiratórias/diagnóstico , Infecções Respiratórias/microbiologia , Resultado do Tratamento
11.
Zhonghua Er Ke Za Zhi ; 57(7): 548-552, 2019 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-31269556

RESUMO

Objective: To assess the diagnostic value of sweat conductivity testing in Chinese children with cystic fibrosis (CF). Methods: This is a retrospective study. Sweat conductivity tests were conducted in 45 CF children (CF group) and 200 non-CF children (non-CF group) diagnosed with other chronic pulmonary diseases at the No. 2 Department of Respiratory Medicine, Beijing Children's Hospital from May 2014 to June 2018. Pearson's chi-square test was used to assess the differences between CF and non-CF groups. A receiver operating characteristic curve was constructed to calculate the best cut-off value to diagnose or rule out CF. The pulmonary function parameters (forced expiratory volume in the first second, forced vital capacity,forced expiratory flows at 75% of exhaled vital capacity) of CF children over 6 years old were analyzed. The relationship between sweat conductivity and pulmonary function was compared between the two groups (80-120mmol/L vs.>120mmol/L). Results: The age of CF group was 9 (7,12) years old, 19 males (42%) and 26 females(58%); the age of non-CF group was 8 (5,11) years old, 106 males (53%) and 94 females(47%). The results of sweat conductivity test showed that sweat conductivity in CF group 108(99, 122) mmol/L was significantly higher than that in non-CF group 43(36, 52) mmol/L (χ(2)=207, P<0.01). A cut-off value of 80 mmol/L for CF diagnosis showed a sensitivity of 93.3% and a specificity of 98.5%. The receiver operating characteristic curve analysis suggested the best conductivity cut-off value for the diagnosis of CF was at 83.5 mmol/L,with a sensitivity of 93.3% and a specificity of 100%,and an area under the curve of 0.993 (95% confidence interval 0.985-1.000). The best conductivity cut-off value to rule out CF diagnosis was at 63.5 mmol/L,with a sensitivity of 97.8% and a specificity of 90.5%. There was no correlation between the level of sweat conductivity and the extent of pulmonary function decline. Conclusions: Sweat conductivity testing can be used for the screening of CF in Chinese children. A diagnosis of CF should be considered if the value is greater than 80 mmol/L.


Assuntos
Cloretos/análise , Fibrose Cística/diagnóstico , Condutividade Elétrica , Suor/química , Suor/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos
12.
Neumol. pediátr. (En línea) ; 14(2): 105-110, jul. 2019. graf, ilust, tab
Artigo em Espanhol | LILACS | ID: biblio-1015136

RESUMO

Spirometry is better pulmonary function test for evaluating preschoolers with chronic lung disease and recurrent wheeze. It is useful, accessible and very good performance. For a correct interpretation it must be under the conditions specially controlled for this age group. In this review, product of the work done during the year 2018, by the Committee on pulmonary function in pediatric pulmonology Chilean society, will be showcased aspects for the realization and interpretation of spirometry in preschool children, with emphasis on the differences in the criteria typically described for older children and adults.


La espirometría es la prueba de función pulmonar más adecuada para evaluar a preescolares con enfermedades pulmonares crónicas y sibilancias recurrentes. Es útil, accesible y de buen rendimiento. Para una correcta interpretación debe realizarse bajo las condiciones especialmente normadas para este grupo etario. En esta revisión, producto del trabajo realizado durante el año 2018, por la comisión de función pulmonar de la sociedad Chilena de Neumología Pediátrica, se expondrán los aspectos actualizados para la realización e interpretación de la espirometría en preescolares, con énfasis en las diferencias de los criterios clásicamente descritos para niños mayores y adultos.


Assuntos
Humanos , Pré-Escolar , Espirometria/métodos , Testes de Função Respiratória , Asma/diagnóstico , Asma/fisiopatologia , Índice de Gravidade de Doença , Capacidade Vital , Volume Expiratório Forçado , Fibrose Cística/diagnóstico , Fibrose Cística/fisiopatologia , Pneumopatias/diagnóstico , Pneumopatias/fisiopatologia
13.
Neumol. pediátr. (En línea) ; 14(2): 86-91, jul. 2019. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-1015004

RESUMO

Bronchiectasis is a suppurative lung disease with heterogeneous phenotypic characteristics. It is defined as abnormal dilation of the bronchi, losing the existing relationship between bronchial sizes and accompanying artery. According to their form, they can be cylindrical, varicose, saccular or cystic. According to its location, they could be diffuse or localized. The diagnosis of bronchiectasis is usually suspected in patients with chronic cough, mucopurulent bronchorrea, and recurrent respiratory infections. The etiology can be varied, being able to classify in cystic fibrosis bronchiectasis, when there is cystic fibrosis transmembrane regulator (CFTR) gene mutation and not cystic fibrosis, being post infectious the most frequent. Its relationship with childhood is unknown. Severe respiratory infections can predispose in a susceptible subject the so-called theory of the "vicious circle" and the development of these. Persistent bacterial bronchitis in children has been described as a probable cause of not cystic fibrosis bronchiectasis in adults. The treatment is based on the management of symptoms and the prevention of exacerbations. The evidence is poor and many treatments are extrapolated from cystic fibrosis bronchiectasis. We are going to describe the diagnostic and therapeutic approach of non-cystic fibrosis bronchiectasis in adults.


La bronquiectasia es una enfermedad pulmonar supurativa con características fenotípicas heterogéneas. Se define como la dilatación anormal de los bronquios, perdiendo la relación existente entre tamaño bronquial y arteria que acompaña. Según su forma, pueden ser clasificadas en cilíndricas, varicosas, saculares o quísticas y según su etiología presentarse de forma difusa o localizada. El diagnóstico de bronquiectasias se sospecha generalmente en pacientes con tos crónica, broncorrea mucosa, mucupurulenta e infecciones respiratorias recurrentes. La etiología es variada, pudiendo clasificarse en bronquiectasias fibrosis quística, aquellas que se encuentran en el contexto de la mutación del gen regulador transmembrana de fibrosis quística (CFTR) y no fibrosis quística, de etiologías diversas, siendo post infecciosas la gran mayoría. No se conoce con certeza su relación con la infancia, es sabido que infecciones respiratorias severas pueden predisponer en un sujeto susceptible, a la llamada teoría del "circulo vicioso" y el desarrollo de estas. La bronquitis bacteriana persistente en niños se ha descrito como una causa probable del desarrollo de bronquiectasias no fibrosis quística en adultos. El tratamiento se basa en el manejo de los síntomas y la prevención de las exacerbaciones. La evidencia es escasa y la mayoría de las terapias se han investigado en las bronquiectasias tipo fibrosis quística. En este trabajo se explicará el enfrentamiento diagnóstico y terapéutico de los adultos portadores de bronquiectasias no fibrosis quística.


Assuntos
Humanos , Masculino , Criança , Adulto , Aspergilose Broncopulmonar Alérgica/diagnóstico , Aspergilose Broncopulmonar Alérgica/terapia , Bronquiectasia/fisiopatologia , Bronquiectasia/terapia , Fibrose Cística/diagnóstico , Aspergilose Broncopulmonar Alérgica/diagnóstico por imagem , Bronquiectasia/diagnóstico , Bronquiectasia/etiologia , Bronquiectasia/epidemiologia , Radiografia Torácica , Macrolídeos/uso terapêutico , Fibrose Cística/terapia , Fibrose Cística/epidemiologia , Antibacterianos/uso terapêutico
14.
BMJ Case Rep ; 12(6)2019 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-31177194

RESUMO

An 8-month-old child presented after an emergency referral from a paediatric clinic. She had sustained a small burn injury to the left volar wrist during the sweat test for cystic fibrosis. The injury was managed conservatively. There is limited literature on burn injuries sustained during the sweat test, despite it being a known risk and the incidence is reported as very small. We wonder if such events are not being reported because the injury caused is usually minor and so may be more prevalent than previously considered.


Assuntos
Fibrose Cística/diagnóstico , Iontoforese/efeitos adversos , Pele/lesões , Suor/metabolismo , Queimaduras/etiologia , Queimaduras/patologia , Tratamento Conservador , Feminino , Humanos , Lactente
15.
Croat Med J ; 60(3): 246-249, 2019 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-31187952

RESUMO

The diagnosis of cystic fibrosis (CF) is commonly confirmed by molecular genetics with the presence of specific mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report a case of cystic fibrosis (CF) in a 15-year-old female patient who is a compound heterozygote for CFTR gene, with delta F508 and Tyr109Glyfs mutations detected. This is the first detailed description of such a case in the medical literature. The primary CF presentation occurred at the age of 9 in the form of gastrointestinal symptoms including greasy, bulky, and foul-smelling stool. The patient exhibited delayed growth, with her height and weight being below the 5th centile for age according to the World Health Organization growth curves. Pancreatic enzyme supplement treatment was started immediately, alongside high-fat and high-calorie diet, resulting in patient's recovery and development. DNA analysis of CFTR gene demonstrated the presence of del. F508 mutation and a rare combining deletion and insertion mutation p. Tyr109Glyfs. The combination of the two mutations is very rare in CF patients and is therefore valuable to document this case in order to provide information on disease progression, therapy options, and outcomes. With standard treatment and early diagnosis, the patient is currently doing well and is not restricted by the disease in her daily and sports activities.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Fibrose Cística/terapia , Adolescente , Criança , Fibrose Cística/diagnóstico , Feminino , Heterozigoto , Humanos , Mutação INDEL
16.
BMJ Case Rep ; 12(6)2019 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-31164380

RESUMO

Cystic fibrosis (CF) is an autosomal recessive condition, mostly diagnosed in infancy. It is uncommon for adults to be diagnosed with CF, especially after the age of 65. Individuals, who are diagnosed later in life, usually have milder disease and single organ involvement which can be challenging for clinicians to diagnose. Adult CF patients are more likely to be pancreatic sufficient. They have predominantly upper lobe bronchiectasis, lower incidence of Pseudomonas aeruginosa compared with Staphylococcus aureus and are more likely to have mutations other than ΔF508.


Assuntos
Bronquiectasia , Fibrose Cística/diagnóstico , Pneumonia Estafilocócica , Staphylococcus aureus/isolamento & purificação , Idoso , Fibrose Cística/diagnóstico por imagem , Fibrose Cística/genética , Diagnóstico Diferencial , Feminino , Humanos , Tomografia Computadorizada por Raios X
17.
Paediatr Respir Rev ; 31: 21-24, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31153793

RESUMO

Newborn screening and extensive genetic analysis has led to the recognition of a cohort of infants with an equivocal diagnosis of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) disease. This paper reviews the comprehensive approach required for diagnosis of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) and uses an illustrative case with p.Asp1152His (D1152H) mutation to examine the varying clinical phenotype seen amongst CFSPID patients. Whilst infants are well at diagnosis, uncertainties about cystic fibrosis (CF) disease progression indicate the importance of monitoring and early specialist involvement. However, over-medicalisation can cause significant psychosocial impact on patients' and families. The complexities underlying the surveillance and long-term management of patients with CFSPID are explored.


Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/terapia , Cloretos/análise , Efeitos Psicossociais da Doença , Fibrose Cística/genética , Fibrose Cística/fisiopatologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Gerenciamento Clínico , Progressão da Doença , Humanos , Recém-Nascido , Mutação , Triagem Neonatal , Fenótipo , Suor/química
18.
Ital J Pediatr ; 45(1): 56, 2019 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-31046783

RESUMO

The Lung Clearance Index (LCI) is an index derived from washout recordings, able to detect early peripheral airway damage in subjects with cystic fibrosis (CF) with a greater sensitivity than spirometry.LCI is a marker of overall lung ventilation inhomogeneity; in fact, as pulmonary ventilation worsens, the number of tidal breaths and the expiratory volumes required to clear the lungs of a marker gas are increased, as documented by a greater value.In the field of CF, LCI allows indirect investigation of the small airways (< 2 mm) the site where, from a pathophysiologic point of view, the disease begins due to the defect of the CF transmembrane-conductance regulator (CFTR) protein. Infant pulmonary function changes seem to occur before clinically overt symptoms of lower respiratory illness occur.When performing the test, it is important to refer to the American Thoracic Society and European Respiratory Society consensus statements and apply a strict standardization.In Italy the first tests were carried out in 2014 for research purpose and now approximately 10 centers are collecting data and are experiencing a consistency in repeating exams.Currently in Italian centers children at pre-school age are the main target: in this population it is important to have a sensitive and feasible test, non-invasive, that can be performed at tidal volume without sedation, and requiring minimal cooperation and coordination, and that can be used longitudinally over time. Another target could be the transplanted subjects to detect early signs of lung function decline.The content of this paper captures the experience and discussions among some of the Italian centers where LCI is currently used for research and/or in clinical practice about the method and the need to have a common approach.The aim of this paper is not to describe the methodology of MBW, but to inform the pediatric community about the possible application of LCI in CF.


Assuntos
Fibrose Cística/diagnóstico , Criança , Pré-Escolar , Fibrose Cística/fisiopatologia , Volume Expiratório Forçado/fisiologia , Humanos , Itália , Volume de Ventilação Pulmonar/fisiologia
19.
Paediatr Respir Rev ; 31: 3-5, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30956155

RESUMO

Newborn screening for cystic fibrosis (CF) has become a widely accepted and endorsed public health strategy in economically developed countries, although there is little consensus on optimal screening methods and gene panels. Increasing understanding of CFTR genetics and consequent unpredictability of phenotypic and clinical outcomes lead to diagnostic uncertainty, and emergence of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CF-SPID). Many of these children are clinically well or have a mild phenotype yet may still experience the psychosocial impact of a CF diagnosis. This questions the role of newborn screening and how best to manage those it identifies with CF-SPID.


Assuntos
Fibrose Cística/diagnóstico , Triagem Neonatal , Aminofenóis/uso terapêutico , Agonistas dos Canais de Cloreto/uso terapêutico , Cloretos/análise , Fibrose Cística/tratamento farmacológico , Fibrose Cística/genética , Fibrose Cística/fisiopatologia , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Reações Falso-Positivas , Política de Saúde , Humanos , Recém-Nascido , Mutação , Penetrância , Fenótipo , Quinolonas/uso terapêutico , Medição de Risco , Suor/química
20.
Paediatr Respir Rev ; 31: 12-14, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30962150

RESUMO

NICE produced a guideline for the diagnosis and management of CF (NG78) in October 2017. This paper describes the process of producing the guideline and highlights some of the areas covered by it, including ideas for further research and tools that can be used by purchasers to help improve CF care.


Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/terapia , Guias de Prática Clínica como Assunto , Antibacterianos/uso terapêutico , Doenças Ósseas Metabólicas/diagnóstico , Infecção Hospitalar/prevenção & controle , Diabetes Mellitus/diagnóstico , Expectorantes/uso terapêutico , Teste de Tolerância a Glucose , Humanos , Programas de Rastreamento , Modalidades de Fisioterapia , Terapia Respiratória , Reino Unido
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