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1.
J Cyst Fibros ; 14(5): 615-20, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25985911

RESUMO

BACKGROUNDS: Recent reports have pointed the low vaccine coverage in patients with chronic diseases. Data are lacking in patients with cystic fibrosis (CF). Gaining more information on coverage both for mandatory vaccines and those more specifically recommended would help to optimize care of these patients. METHODS: Data were extracted from the "MucoFlu" study, which was a prospective study performed in 2009 in the 5 cystic fibrosis centers of the Paris metropolitan area. Data on mandatory and recommended vaccines in CF were collected in the health booklet and compared to the coverage of the general population. RESULTS: A total of 134 CF children were included. Vaccination coverage for mandatory vaccines was insufficient (DTPCaHi, conjugate pneumococcal, BCG, MMR and hepatitis B) at 1year of age with no catching-up with age in contrast to the general population. Approximately 66% of the children had immunization for seasonal influenza and 91% for 2009 pandemic flu. Coverage for vaccines specifically recommended in CF was low for hepatitis A, non conjugate pneumococcal and varicella. CONCLUSION: This study shows a defect in vaccine coverage for both routine immunization and vaccines more specifically recommended in CF.


Assuntos
Fibrose Cística/terapia , Vacinação/estatística & dados numéricos , Vacinas Virais/farmacologia , Viroses/prevenção & controle , Adolescente , Criança , Pré-Escolar , Fibrose Cística/complicações , Fibrose Cística/epidemiologia , Feminino , França/epidemiologia , Humanos , Incidência , Lactente , Masculino , Estudos Prospectivos , Viroses/complicações , Viroses/epidemiologia
2.
Rev Mal Respir ; 31(4): 336-46, 2014 Apr.
Artigo em Francês | MEDLINE | ID: mdl-24750953

RESUMO

In the past few years some new inhaled drugs and inhalation devices have been proposed for the treatment of cystic fibrosis. Breath-controlled nebulizers allow increased pulmonary deposition, with a lower variability and a shorter delivery time. The new dry powder formulations of tobramycin, colistine and mannitol require a change in the inhalation technique which must be slow and deep. In the field of the inhaled mucolytic drugs, hypertonic saline and mannitol have an indication in some patients. With regard to antibiotics, dry-powder tobramycin and colistine can be substituted for the same drug delivered by nebulization. Nebulized aztreonam needs more studies to determine its place. These new treatments represent a definite advance for cystic fibrosis patients and need to be known by all practitioners. Their position in our therapeutic arsenal remains to be accurately defined.


Assuntos
Fibrose Cística/tratamento farmacológico , Administração por Inalação , Aerossóis , Antibacterianos/administração & dosagem , Antibacterianos/efeitos adversos , Antibacterianos/economia , Antibacterianos/uso terapêutico , Contraindicações , Inaladores de Pó Seco , Desenho de Equipamento , Expectorantes/administração & dosagem , Expectorantes/uso terapêutico , França , Acessibilidade aos Serviços de Saúde , Humanos , Manitol/administração & dosagem , Manitol/uso terapêutico , Nebulizadores e Vaporizadores , Pós , Solução Salina Hipertônica/administração & dosagem , Solução Salina Hipertônica/uso terapêutico
3.
Rev Pneumol Clin ; 69(4): 225-8, 2013 Aug.
Artigo em Francês | MEDLINE | ID: mdl-23856023

RESUMO

The improvement over the last two decades in the treatment of cystic fibrosis led to an increase in life expectancy approaching 40 years at birth. Logically, the population of adult patients has been increasing and is currently 50% of patients followed in France. These therapeutic advances have justified the establishment in 2003 of a generalized neonatal screening for cystic fibrosis. The latest data of this screening show an incidence of CF of 1/5359 live births, far below the incidence of 1/2500 which was widely accepted twenty years ago. The performance of this screening is currently based on the dosage of trypsin immuno reactive, followed in case of exceeding the threshold of a search of the 30 most common mutations, can detect around 96% of 150 to 200 CF cases every year. Therefore, the possibility of a false negative of the screening cannot be excluded and evocative symptoms of cystic fibrosis, even for children born after 2003, will lead to prescribe a sweat test. While treatments available so far goal consequences of cystic fibrosis, a new therapeutic class to correct the functional defect of the mutated protein, called CFTR modulators, is emerging. Ivacaftor, leader of this new class, belonging to the category of "CFTR potentiator" got its access on the market in September 2012 for patients carrying the G551D mutation. New other molecules, named "CFTR correctors" which can have synergistic effect with ivacaftor and concern patients carrying the most common mutation--DF 508--are under development.


Assuntos
Fibrose Cística , Adulto , Aminofenóis/uso terapêutico , Ensaios Clínicos como Assunto/tendências , Fibrose Cística/diagnóstico , Fibrose Cística/epidemiologia , Fibrose Cística/terapia , Regulador de Condutância Transmembrana em Fibrose Cística/agonistas , França/epidemiologia , Humanos , Recém-Nascido , Terapia de Alvo Molecular/métodos , Terapia de Alvo Molecular/tendências , Triagem Neonatal , Quinolonas/uso terapêutico
4.
Arch Pediatr ; 16(3): 294-8, 2009 Mar.
Artigo em Francês | MEDLINE | ID: mdl-19171468

RESUMO

An asthmatic girl was first hospitalized at age 2(9/12) years because of dyspnoea, lung consolidations and/or atelectasis, and rattling. Between ages 2(9/12) and 6(2/12) years, she required three hospitalizations in ICU out of nine hospitalizations for the same symptoms. Differential diagnosis of this difficult to treat asthma disclosed severe tracheomalacia and persistent asthma. Treatments given according to the clinical, radiological and functional findings failed to decrease frequency and severity of acute respiratory episodes. Eventually, positive pressure ventilation delivered at airway opening (via a mouthpiece) associated to active respiratory physiotherapy succeeded in removing atelectasis and quickly cured the five following acute episodes without any further hospitalization. This case report is about diagnosis procedure, intricate asthma and tracheomalacia, and open mind to unusual therapeutics that may disclose potential help.


Assuntos
Asma/complicações , Respiração com Pressão Positiva , Traqueomalácia/etiologia , Traqueomalácia/terapia , Criança , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Atelectasia Pulmonar/etiologia , Atelectasia Pulmonar/terapia
5.
J Med Genet ; 43(4): 326-33, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16055928

RESUMO

INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare disease classically transmitted as an autosomal recessive trait and characterised by recurrent airway infections due to abnormal ciliary structure and function. To date, only two autosomal genes, DNAI1 and DNAH5 encoding axonemal dynein chains, have been shown to cause PCD with defective outer dynein arms. Here, we investigated one non-consanguineous family in which a woman with retinitis pigmentosa (RP) gave birth to two boys with a complex phenotype combining PCD, discovered in early childhood and characterised by partial dynein arm defects, and RP that occurred secondarily. The family history prompted us to search for an X linked gene that could account for both conditions. RESULTS: We found perfect segregation of the disease phenotype with RP3 associated markers (Xp21.1). Analysis of the retinitis pigmentosa GTPase regulator gene (RPGR) located at this locus revealed a mutation (631_IVS6+9del) in the two boys and their mother. As shown by study of RPGR transcripts expressed in nasal epithelial cells, this intragenic deletion, which leads to activation of a cryptic donor splice site, predicts a severely truncated protein. CONCLUSION: These data provide the first clear demonstration of X linked transmission of PCD. This unusual mode of inheritance of PCD in patients with particular phenotypic features (that is, partial dynein arm defects and association with RP), which should modify the current management of families affected by PCD or RP, unveils the importance of RPGR in the proper development of both respiratory ciliary structures and connecting cilia of photoreceptors.


Assuntos
Proteínas do Olho/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Síndrome de Kartagener/genética , Mutação , Retinose Pigmentar/genética , Adolescente , Adulto , Cílios/fisiologia , Cílios/ultraestrutura , Análise Mutacional de DNA , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Genótipo , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico , Masculino , Repetições de Microssatélites , Linhagem , Fenótipo , Mucosa Respiratória/ultraestrutura , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico
6.
Arch Pediatr ; 10 Suppl 5: 588s-591s, 2003 Dec.
Artigo em Francês | MEDLINE | ID: mdl-15022786

RESUMO

Allergic bronchopulmonary aspergillosis (ABPA) should be suspected in any CF patient whose pulmonary disease deteriorates precipitously, suddenly or unexpectedly, and has to be correlated to fungal hypersensitivity biological tests. The standard therapeutic approach is based upon systemic corticosteroids. Invasive pulmonary aspergillosis (IPA) may occur mainly but not exclusively in immunosuppressed patients undergoing lung transplantation. New antifungal compounds (Triazoles, Itraconazole, Voriconazole), Echinochandins (Caspofungin) are effective, synergistic, well tolerated, should their contraindications and side effects be carefully respected and monitored.


Assuntos
Aspergilose/complicações , Fibrose Cística/complicações , Pneumopatias Fúngicas/complicações , Aspergilose/tratamento farmacológico , Aspergilose Broncopulmonar Alérgica/complicações , Aspergilose Broncopulmonar Alérgica/tratamento farmacológico , Criança , Humanos , Pneumopatias Fúngicas/tratamento farmacológico
8.
Arch Pediatr ; 5(4): 384-8, 1998 Apr.
Artigo em Francês | MEDLINE | ID: mdl-9759157

RESUMO

BACKGROUND: The Epidemiologic Registry of Cystic Fibrosis (ERCF) is an international registry, sponsored by Roche Laboratories, collecting data about CF patients in Europe. The aim of the our study is to compare the French data with the European data collected during the year 1995. RESULTS: By December 31st 1995, 8,831 patients have been enrolled in Europe, including 1,457 patients in France. French CF patients are younger (mean age = 12.6 years) than European CF patients (mean age = 14.6 years). Genotype is better characterised in France (89 vs 75% for European patients), but only 49% of CF patients are homozygote for the DF508 deletion in France versus 77% in Denmark. Two clinical features of French CF patients are interesting: 1) presence of Staphylococcus aureus and Haemophilus influenzae (52%) is more frequent in France than in Europe (65 vs 48% and 52 vs 29%, respectively), 2) lung function tests (forced vital capacity [FVC]), forced expiratory volume per second [FEV1] are worse in France (P < 0.001) particularly in the older patients (> 18 years): 39% of these patients in France have a FEV1 < 40% of predicted value compared to only 29% in Europe. Similarly there are fewer patients in this age group in France (22 vs 31% in Europe) having a FVC > 90% of the predicted value in France. With regard to the treatment, three differences emerge: 1) dornase alfa is more used in France (55 vs only 34% in Europe); 2) use of prophylactic inhaled and oral antibiotics is less common in France than in all age groups; 3) the use of inhaled corticosteroids and bronchodilators is also less common in France despite the same incidence of asthma-like symptoms. Finally we notice that the mean age at death in 1995 is 18.2 years (+/- 2.38) in France and 20.6 years (+/- 0.85) in Europe. CONCLUSION: These results are preliminary because 1995 is the first year for ERCF in France and a low percentage of French CF patients are included for this year. Therefore they must be interpreted with caution. Nevertheless, we can hypothesise about a relationship between these results and a less aggressive treatment regimen. The impact of dornase alfa use on prognosis seems interesting to analyse in future years.


Assuntos
Fibrose Cística/epidemiologia , Sistema de Registros/estatística & dados numéricos , Adolescente , Adulto , Criança , Pré-Escolar , Fibrose Cística/tratamento farmacológico , Fibrose Cística/genética , Fibrose Cística/microbiologia , Fibrose Cística/mortalidade , Fibrose Cística/fisiopatologia , Desoxirribonuclease I/uso terapêutico , Europa (Continente)/epidemiologia , Expectorantes/uso terapêutico , Feminino , França/epidemiologia , Humanos , Masculino , Proteínas Recombinantes/uso terapêutico
9.
Eur Respir J ; 11(6): 1329-36, 1998 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-9657575

RESUMO

The involvement of the insulin-like growth factor (IGF) system in lung growth and repair following injury is sustained by a number of studies. Based on this knowledge, the aim of the present work was to document the expression of the IGFs and their binding proteins by alveolar cells obtained by bronchoalveolar lavage (BAL). Two groups were investigated: a control group of five children and a group of 11 children referred to the department for exploration of interstitial lung disease (ILD). Components of the IGF system studied included IGF-I, IGF-II and IGF-binding proteins (IGFBP). Expression of these factors was analysed at the level of messenger ribonucleic acid (mRNA) (by semi-quantitative reverse transcription polymerase chain reaction techniques), and of protein for the IGFBPs. In addition, expression of two major cytokines associated with the inflammatory process, tumour necrosis factor-alpha (TNF-alpha) and transforming growth factor-beta (TGF-beta), was also documented. In children without parenchymal disease, the growth factor expressed was IGF-I, in association with the presence of mRNA for IGFBP-2 in all cases. In children with ILD, expression of IGF-I was observed in nine patients and of IGF-II in three patients, and the presence of IGFBP-2 was found in all extracts analysed (mRNA and proteins). Evaluation of IGFBP-2 expression indicated an increase in the group of children with ILD. Interestingly, a significant association was observed between the increase in IGFBP-2 expression and TGF-beta expression. The present data emphasize the presence on insulin-like growth factor-binding protein-2 in the BAL of all patients, and suggest that this protein may be an important factor of the injury/repair processes during the progression of alveolar inflammation.


Assuntos
Proteínas de Ligação a Fator de Crescimento Semelhante a Insulina/biossíntese , Doenças Pulmonares Intersticiais/metabolismo , Alvéolos Pulmonares/metabolismo , Somatomedinas/biossíntese , Adolescente , Líquido da Lavagem Broncoalveolar/citologia , Contagem de Células , Criança , Pré-Escolar , Feminino , Humanos , Proteína 2 de Ligação a Fator de Crescimento Semelhante à Insulina/biossíntese , Fator de Crescimento Insulin-Like I/biossíntese , Masculino , Reação em Cadeia da Polimerase , RNA Mensageiro/análise , Fator de Crescimento Transformador beta/metabolismo , Fator de Necrose Tumoral alfa/metabolismo
10.
Pediatr Infect Dis J ; 16(4): 354-8, 1997 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9109135

RESUMO

BACKGROUND: Patients with cystic fibrosis (CF) may be predisposed to airway infections with unusual organisms, such as mycobacteria. The aim of the study was to determine the incidence and clinical picture of mycobacterial infection in CF children. METHODS: At least 2 acid-fast bacillus (AFB) smears and mycobacterial cultures were performed on a prospective basis on 682 sputum specimens from 106 patients during a 1-year period. RESULTS: Thirty-three percent of the cultures were contaminated with other bacteria. Seven children had at least one sputum culture positive for one mycobacterium. Five children had only one positive AFB culture. Their clinical status and lung function remained stable during follow-up. Two teenagers with severe lung disease had several positive AFB smears and cultures for Mycobacterium chelonae and Mycobacterium abscessus. The isolation of M. chelonae and M. abscessus was associated with a clinical and functional decline. Clarithromycin treatment resulted in temporary improvement with the disappearance of the mycobacteria after 6 months of treatment. This prospective study shows an incidence of 2.3% for positive cultures. The prevalence was 6.6% for mycobacterial colonization but only 1.9% for mycobacterial lung disease in our pediatric population. CONCLUSIONS: We recommend performing AFB smears and cultures in CF children with severe lung disease and/or during a lung exacerbation. In these patients persistence of M. chelonae or M. abscessus in sputum should lead to consideration of treatment with clarithromycin.


Assuntos
Fibrose Cística/complicações , Pneumopatias/microbiologia , Infecções por Mycobacterium/diagnóstico , Adolescente , Infecções Bacterianas/diagnóstico , Técnicas Bacteriológicas , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Pulmão/microbiologia , Masculino , Mycobacterium/crescimento & desenvolvimento , Infecções por Mycobacterium/epidemiologia , Estudos Prospectivos , Espirometria , Escarro/microbiologia
11.
Arch Pediatr ; 4(12): 1209-12, 1997 Dec.
Artigo em Francês | MEDLINE | ID: mdl-9538425

RESUMO

BACKGROUND: Tuberculosis is rarely seen in patients with cystic fibrosis. CASE REPORT: A 14-year old female adolescent, regularly followed for a well-tolerated form of cystic fibrosis, developed an acute respiratory infection with consolidation of the left inferior lobe, and no response to the usual antibiotic treatment of cystic fibrosis. Mycobacterium tuberculosis was found in aspirate by fibroscopy, on Loewenstein medium. No familial or social infection contact were identified. Antituberculous chemotherapy with three drugs brought about a prompt improvement of sytemic signs, weight gain, resolution of pulmonary foci and sedation of biological findings referable to inflammation. CONCLUSION: This case report reminds us that tuberculosis may occur in cystic fibrosis patients. Loewenstein cultures should routinely be made when faced with an unexplainable worsening of the condition.


Assuntos
Fibrose Cística/complicações , Tuberculose Pulmonar/complicações , Adolescente , Feminino , Humanos
12.
Rev Prat ; 46(17): 2062-9, 1996 Nov 01.
Artigo em Francês | MEDLINE | ID: mdl-8978160

RESUMO

Positive diagnosis of acute bronchopneumopathy in the child is relatively easy, but defining its aetiology is another matter. Criteria to distinguish between pneumopathy of viral or of bacterial origin should be known but are often on the wrong track. Some clinical and radiological pictures, associated with epidemiological data, can also orient toward an infectious agent and should be taken into account. When clinical severity or the background requires precise diagnosis in order to better adapt the treatment, a choice will need to be made among the numerous techniques now available to detect the responsible infectious agent.


Assuntos
Infecções Respiratórias/diagnóstico , Doença Aguda , Fatores Etários , Técnicas Bacteriológicas , Criança , Humanos , Lactente , Infecções Respiratórias/microbiologia , Infecções Respiratórias/virologia , Virologia/métodos
13.
Arch Pediatr ; 3(7): 689-93, 1996 Jul.
Artigo em Francês | MEDLINE | ID: mdl-8881181

RESUMO

BACKGROUND: Mucoepidermoïd carcinomas (MEC) are very rare (less than 20 cases reported in the literature) and potentially malignant bronchial gland carcinomas. PATIENTS: Three children, two boys (11 and 7 years old) and one girl (5 years old) suffered from respiratory symptoms such as cough, recurrent pneumonia and/or hemoptysis for 2 to 12 months. Bronchial endoscopy showed a mass into the left (two cases), or the right main bronchus (one case). Chest CT scan identified local extension, and lung-associated lesions. Histopathological study concluded to MEC in the three cases. The patients were treated by segmental bronchial resection, completed with left upper lobectomy (two cases), bronchotomy (one case). All the tumor could be removed; there was no metastasis. The outcome was uneventful with a 8 to 24 months follow-up. CONCLUSION: Bronchial tumors of children must be considered in patients with chronic cough, recurrent pneumonia and/or hemoptysis and require bronchial endoscopy for their diagnosis.


Assuntos
Neoplasias Brônquicas/diagnóstico , Carcinoma Mucoepidermoide/diagnóstico , Neoplasias Brônquicas/cirurgia , Carcinoma Mucoepidermoide/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Masculino
14.
Rev Pneumol Clin ; 51(3): 193-200, 1995.
Artigo em Francês | MEDLINE | ID: mdl-7569583

RESUMO

rhDNase (Pulmozyme) is a new agent in the therapeutic strategy for patients with cystic fibrosis. It is one of the first specific treatments aimed at the respiratory tract. It affects the extracellular DNA which is present in abundant quantities in the bronchial secretions of these patients. rhDNase significantly reduces the incidence of infections and improves respiratory function. It should be used as a major treatment in combination with all other treatments in patients over 5 years of age with a vital capacity of at least 40% the theoretical value. It is important to schedule the respiratory exercises as a function of rhDNase intake. The long-term therapeutic benefit remains to be evaluated.


Assuntos
Fibrose Cística/tratamento farmacológico , Desoxirribonuclease I/farmacologia , Expectorantes/uso terapêutico , Aerossóis , Desoxirribonuclease I/administração & dosagem , Desoxirribonuclease I/uso terapêutico , Humanos , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/farmacologia , Proteínas Recombinantes/uso terapêutico
15.
Pediatr Res ; 36(5): 667-71, 1994 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-7877889

RESUMO

The relationship between altered insulin secretion and impaired glucose tolerance was studied in 32 cystic fibrosis patients, 16 men and 16 women, aged 8-26 y, using oral and i.v. glucose tolerance tests and a hyperglycemic glucose clamp (10 mmol/L). Seven of these subjects were already being treated with insulin; seven had fasting blood glucose levels below 7.2 mmol/L but satisfied diabetic criteria at the oral glucose tolerance test; glucose tolerance was impaired in 13 subjects and normal in five. The insulin responses to the two i.v. glucose stimuli were inversely correlated with the plasma glucose levels (60 and 120 min) and the area under the curve of the oral glucose tolerance test. However, the acute insulin response to i.v. glucose was severely altered in patients with impaired glucose tolerance, whereas plasma insulin levels during the hyperglycemic clamp did not differ from those of healthy subjects. The responses to the two stimuli were dramatically low in the diabetic patients. These results suggest that cystic fibrosis patients with normal or impaired glucose tolerance retain their capacity to secrete insulin. Alterations in the acute phase of glucose-stimulated insulin secretion seem to be principally responsible for the early impairment in glucose tolerance.


Assuntos
Fibrose Cística/fisiopatologia , Glucose/administração & dosagem , Insulina/metabolismo , Administração Oral , Adolescente , Adulto , Criança , Estudos de Avaliação como Assunto , Feminino , Técnica Clamp de Glucose , Teste de Tolerância a Glucose , Humanos , Injeções Intravenosas , Secreção de Insulina , Masculino
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