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PubMed2000

Clinical application of preimplantation genetic diagnosis for cystic fibrosis.

Cystic fibrosis (CF) is an autosomal recessive disease characterized by obstruction and chronic infections of the respiratory tract and pancreatic insufficiency. The gene was cloned in 1989 and the most frequent mutation was shown to be the delta F508 mutation. During PGD, embryos obtained in vitro are checked for the presence or absence of the mutation, after which only embryos shown to be free of the mutation are returned to the mother. Up to 1999, 48 intracytoplasmic sperm injection (ICSI) and in vitro fertilization (IVF) cycles had been carried out for PGD for CF in 24 couples, and different diagnostic tests had been used to select non-affected embryos. Thirteen patients became pregnant and 12 healthy babies have been born.

Adult↗

PubMed1996

Opportunities for the use of aerosolized alpha 1-antitrypsin for the treatment of cystic fibrosis.

Cystic fibrosis (CF), the most common lethal genetic disease affecting the white population, owes its morbidity and mortality primarily to the devastating effects of chronic inflammation and infection within the pulmonary airways. It has become increasingly recognized that the host's response to Pseudomonas species and Staphylococcus aureus infection plays a paramount role in CF lung destruction and eventual development of respiratory insufficiency. A massive pulmonary influx of neutrophils, and accompanying excessive levels of neutrophil elastase (NE), can be detected in the bronchoalveolar fluid of even very young children with CF. The excess of NE adversely affects the CF airways by enhancing mucus secretion, directly injuring airway tissues, exacerbating the inflammatory process by attracting more neutrophils, and derailing opsonization and elimination of bacterial pathogens, particularly Pseudomonas aeruginosa. Neutralization of excess NE by delivering supplemental alpha 1-antitrypsin to the airways via aerosolization represents an exciting new potential therapy for CF lung disease.

Aerosols↗

PubMed2000

Newer therapies for cystic fibrosis.

Cystic fibrosis (CF) is a chronic, progressive, genetic disease caused by flawed ion transport across epithelial membranes due to a genetic mutation. Most therapeutic efforts are centred on the main clinical manifestations of the disease: progressive destructive airway disease and pancreatic insufficiency. Most individuals with CF succumb to lung disease. The present-day therapeutic armamentarium includes agents that have been used for many decades, some of which have experienced transformations in their formulation or mode of administration thanks to the introduction of new manufacturing technologies. The development of new therapies involves new conceptual approaches, based on recent understanding of the disease. These therapies await proof of concept or clinical experimentation before being accepted as useful means to arrest the progression of the disease. In this article we will review therapeutic agents introduced into the clinical arsenal in the last 20 years, as well as experimental therapies under active investigation.

Anti-Bacterial Agents↗

PubMed2004

Growth hormone and exercise tolerance in patients with cystic fibrosis.

Cystic fibrosis (CF) is a life-limiting inherited disorder characterised by pulmonary disease, pancreatic dysfunction and symptoms of malnutrition that are all interrelated with low exercise capacity and poor survival rate. Therapy with growth hormone (GH) may improve the reduced dimensional and functional capacity associated with poor nutritional status and catabolism and therefore improve exercise tolerance, quality of life and survival rate in patients with CF. The literature about GH treatment and its effect on exercise tolerance are rather limited, not always consistent and methodological concerns restrict further analysis. GH treatment may have beneficial effects on both growth and exercise tolerance without serious complications in prepubertal children with CF. The observed dimensional changes of the muscular, cardiovascular and pulmonary system seem to improve aerobic exercise capacity and respiratory and peripheral muscle strength. The physiological background of the observed changes is not yet fully understood, therefore, larger-scale studies with an optimised design are required.

Body Composition↗

PubMed1995

Nutrition in the pediatric double lung transplant patient with cystic fibrosis.

Cystic fibrosis (CF) is the most common lethal genetic disease in the white population. The pulmonary infections and pancreatic insufficiency make CF a medically challenging disease. Although the importance of nutrition in the CF patient is known, approximately 50% of CF patients are in less than the 10th percentile for weight and height as reported by the 1991 CF Foundation Registry of 114 CF Centers in the United States. This paper addresses the nutritional status of 10 pediatric CF patients who underwent double lung transplant at Children's Hospital of Pittsburgh between August 1991 and May 1993. Patients who survived beyond 1 year gained a significant amount of weight sooner after transplant than those who survived less than 1 year. Gastrostomy tube feedings were more effective than oral intake for weight gain after transplant. CF patients with pancreatic insufficiency have more difficulty with adjustment of doses of immunosuppressive agents for reasons that are not clearly understood.

Adolescent↗

PubMedDate not supplied

[Isolated pathogen microorganisms in respiratory samples from children with cystic fibrosis].

Cystic Fibrosis (CF) is characterized by a dysfunction of the exocrine secretion glands. The first symptoms often appear in the respiratory system which constitutes one of the most important morbimortality causes in these patients. Chronic respiratory tract colonization is caused mainly by bacteria such as Staphylococcus aureus, Haemophilus spp. and Pseudomonas aeruginosa. Respiratory samples from patients with CF (age group: 4 months to 11 years) were analyzed from November 2001 to August 2004. The most frequently isolated microorganisms were S. aureus (38.7%), P. aeruginosa (37.4%) and Haemophilus spp (15.3%). A high resistance to erithromycine (35.0%) and clindamicine (29.4%) was observed in S. aureus strains and 25.9% of them were methicillin-resistant. P. aeruginosa strains were mainly gentamicin-resistant (31.0%). The rate of ampicillin-resistant Haemophilus spp. was 23.0% and it was due to the presence of beta-lactamases, but a high trimethoprim-sulfamethoxazole resistance was observed in this microorganism (59.0%).

Bacteria↗

PubMed2005

The role of airway epithelium and blood neutrophils in the inflammatory response in cystic fibrosis.

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which accounts for the cAMP-modulated chloride conductance of airway epithelial cells. CFTR also regulates other membrane proteins like the negative regulation of the amiloride-sensitive epithelial sodium channel (ENaC). Mutations in the CFTR gene lead to hyperabsorption of sodium chloride and a reduction in the periciliary salt and water content which leads to impaired mucociliary clearance. It seems that a lack of functional CFTR leads to abnormal function of the NF-kappaB pathway in submucosal gland cells, causing an increased production of pro-inflammatory cytokines and the chemokine IL-8, and a pro-inflammatory environment. CFTR is also expressed in neutrophils and several neutrophil functions like cytokine production, migration, phagocytosis and apoptosis seem altered in CF. In this review we describe the role of airway epithelium and blood neutrophils in the viscious circle of inflammation and infection seen in CF.

Animals↗

PubMed1995

Molecular strategies for therapy of cystic fibrosis.

Cystic fibrosis (CF), a lethal disease common to Caucasians, is characterized by a defect in the CF transmembrane conductance regulator and the resulting defective cAMP-regulated Cl- secretion by epithelial cells. Clinical manifestations include both pancreatic and pulmonary insufficiency. Traditional therapeutic modalities address these problems with pancreatic enzyme replacement, vitamins and nutritional supplementation, antibiotics, and respiratory therapy. However, newer therapies directed at the specific underlying defects have emerged. In this review, we discuss agents that increase Cl- secretion via preserved Cl- secretory pathways, such as uridine triphosphate, or that enhance Na+ resorption, such as amiloride, thereby correcting altered airway secretions. We also discuss agents, including deoxyribonuclease (DNase), that directly reduce sputum viscosity. CF is an early target for in vivo gene therapy, since it is a monogenic autosomal recessive disease in which restoration of normal cAMP-regulated Cl- conductance can be achieved by complementation with a normal gene. The early clinical gene therapy therapy work, with gene introduction by both viral and nonviral vectors, is discussed.

Animals↗

PubMedDate not supplied

The physical, psychological, and social implications of caring for the pregnant patient and newborn with cystic fibrosis.

Cystic fibrosis (CF) involves the exocrine glands and epithelial tissues of the pancreas, sweat glands, and mucus glands in the respiratory, digestive, and reproductive tracts. Significant pulmonary disease, poor nutritional status, and pulmonary hypertension are results of chronic infections. When the woman with CF becomes pregnant, her body may find it difficult to adjust to the normal physiological changes of pregnancy, with the pulmonary, cardiovascular, and nutritional status being particularly stressed. Both the mother and the fetus are at a significant risk for increased morbidity and mortality. The woman whose life and pregnancy are compromised by CF and/or the newborn who is diagnosed with CF offer the nurse an extremely challenging situation--one in which physical and psychological care are proportional in importance. As part of the healthcare team, which includes a perinatologist, a pulmonary medicine specialist, a neonatologist, an anesthesiologist, a geneticist, a dietitian, a respiratory therapist, a social worker, an ethicist, and perhaps a clergyman, the nurse helps to coordinate and carry out the care needed for a successful outcome.

Cystic Fibrosis↗

PubMedDate not supplied

[Genetic markers in the pathogenesis of osteopenia and osteoporosis in cystic fibrosis].

Cystic fibrosis (CF) is the most common recessive autosomal disorder in the Caucasian population. Advancements in treatment of CF patients have increased life expectancy from approximately 2 to over 30 years. Complex approach to the health status and management of CF children increased the interest in osteoarticular system pathology in these patients. This particularly concerns osteopenia and osteoporosis. Multiple studies indicate that osteoporosis is a genetic disease in which the phenotype is determined by both environmental and genetic factors and by mutual interactions between them. It is postulated that osteoporosis occurs as the result of mutations and/or polymorphisms in many different genes. The evidence for the genotype-phenotype correlation came from the analysis of mutations and polymorphisms in Collagen Type I Alpha 1 (COL1A1), Vitamin D Receptor (VDR) and Calcitonin receptor (CALCR) genes. Determination of osteoporotic genetic background may lead to better understanding of the pathomechanism of osteoporosis in CF patients and to help further define treatment guidelines.

Bone Diseases, Metabolic↗

PubMedDate not supplied

[Isolated hepatic transplant in patient with cystic fibrosis].

Cystic fibrosis (CF) is a recessive autosomic disease with multiorgan, although predominantly pancreatic and pulmonary, involvement. Liver involvement is infrequent in children under the age of 5 years, but increases progressively with time. It is characterized by the development of focal biliary cirrhosis with eventual appearance of portal hypertension. During the last few years the more effective control of the pulmonary complications, which are the main cause of mortality, has led to an increase in the survival of these patients and thus the number of patients with CF and liver involvement is greater every day. In these cases, the prognosis is bad and most patients die in 4 to 5 years. Isolated liver transplantation is a recently proposed alternative for patients who have developed liver cirrhosis but who maintain acceptable pulmonary function. The case of a 14-years-old patient in whom liver transplantation was performed with good results after 8 months of follow-up is presented. Improvement in the nutritive state and pulmonary function was observed.

Adolescent↗

PubMed1984

Advances in the diagnosis and management of cystic fibrosis.

Cystic fibrosis (CF), the most common lethal genetic disease affecting Caucasians, is a multi-system illness, most frequently characterized by childhood chronic obstructive pulmonary disease, pancreatic exocrine insufficiency, and abnormal sweat electrolyte concentrations. The diagnosis of CF is based on a combination of the above clinical findings and/or a positive family history of the illness in conjunction with an abnormal sweat test. The quantitative pilocarpine iontophoresis test is the sole acceptable method for diagnostic confirmation of the clinical suspicion of CF. A recent advance in the diagnosis of CF has been in the development of methods for neonatal detection. The immunoreactive trypsinogen (IRT) detection test is practical, adaptable to large scale screening of dried neonatal blood spots, relatively inexpensive, and promising for the detection of newborns with CF who have pancreatic insufficiency. However, the reliability and validity of this method have not yet been adequately established. Major advances in the treatment of patients with CF have emerged in the last decades, particularly in supportive pulmonary and nutritional care.

Adolescent↗

PubMed2004

Diabetes in an infant with cystic fibrosis.

Cystic fibrosis (CF)-related diabetes mellitus is an unusual complication in very young pediatric patients with CF. It is generally associated with more severe clinical manifestations of CF. In this report, we describe a case of diabetes and CF starting in infancy. The patient manifested a form of intermittent diabetes without fasting hyperglycemia, which was exacerbated by steroid treatment during pulmonary disease and occasionally required insulin therapy. Insulin responses to oral and intravenous glucose challenge were low. The clinical and radiological status was stable during the 9-yr follow-up. Our patient demonstrates that diabetes may not only represent a complication of CF, as previously maintained, but can also be a co-morbid condition proceeding along with the exocrine disease. The early occurrence of hyperglycemia in this case may highlight an impairment of beta-cell function, which might be genetically determined. Careful monitoring of the glucose profile and of beta-cell function is indicated in patients with CF to avoid late recognition of diabetes.

Comorbidity↗

PubMed2001

Disease knowledge in a high-risk population for cystic fibrosis.

Cystic fibrosis (CF) has high incidence (1/936 live births) and carrier rate (1/15 inhabitants) in Saguenay-Lac-Saint-Jean (SLSJ). One objective of a major enquiry among several subsets of individuals from this high-risk population for CF was to evaluate the knowledge of the disease and its genetic transmission. The overall score of correct answers pertaining to the clinical signs of CF among medical doctors (general practitioners and specialists) was 42.2 and 65.6%, respectively; it was 84.2% for questions regarding the genetic transmission of CF. The knowledge of the clinical signs was reasonable among CF patients and their parents (about 65% of correct answers), but it was much higher for the genetics (over 88% among parents). Aunts and uncles of CF children were poorly informed of the clinical signs (33.9% of correct answers) but well informed of the genetic transmission (73.8%). Specific subsets of the SLSJ population showed important gaps in the knowledge of the clinical signs of CF but, overall, they were well informed of its genetic transmission.

Adolescent↗

PubMed1989

Current approaches to the molecular and physiological basis of cystic fibrosis.

Cystic fibrosis (CF) is the most common disease caused by a single gene abnormality within the caucasian population. Its severity of expression in homozygotes varies widely, and the disease involves multiple organ systems. During the past few years, major advances in CF research have been made. These advances have occurred primarily in the fields of physiology and molecular genetics. As a result of these advances, it is now generally accepted that the basic defect in CF is the inability of an epithelial chloride channel to respond to adrenergic stimulation in affected organs. The recent major breakthrough in CF research is the localization of the CF gene and identification of the mutation responsible for the majority of cases of CF. In this article, the evidence which has led to this conclusion, as well as possible mechanisms by which a mutation in a single codon can produce the CF defects are reviewed. Finally, new approaches to the characterization of the CF gene by complementation of the defect in immortal cell lines displaying the transport phenotype associated with CF are discussed.

Blood Proteins↗

PubMed2002

Determinants of adherence in adults with cystic fibrosis.

Cystic fibrosis (CF) is now as much a disease of adults as of children and adolescents. An important focus of recent research has been the impact of the complex, expensive, and time consuming routine of self-care and medical treatment that is required by adults with CF to maintain health. A growing concern for medical and allied health teams is the issue of patient adherence to prescribed health management plans. A summary of the particular medical and treatment context of CF is followed by a review of adherence measurement issues and the determinants of adherence to treatment regimens in people with CF, primarily adults. Evidence for factors which influence adherence decisions of people with CF is examined. The medical and psychological aspects of this complex problem have not been adequately addressed because of difficulties with definition and measurement. Only a small proportion of the variance in adherence has been accounted for in the literature. New measurement technologies and new theoretical directions offer promise for a better understanding of this complex and important issue and may result in more effective intervention strategies to improve adherence.

Adult↗

PubMed2005

Circulating markers to assess nutritional therapy in cystic fibrosis.

Cystic fibrosis (CF) is the most commonly occurring lethal autosomal recessive disorder. The gene defect causes defective sodium and chloride transport across epithelial cells of the respiratory, hepatobiliary, gastrointestinal and reproductive tracts, resulting in thick mucus secretions. In the respiratory tract, mucus traps bacteria, causing repeated lung infections, progressive bronchiectasis and eventual death due to respiratory failure. In the gastrointestinal tract, mucus prevents pancreatic enzymes reaching the gut, leading to nutrient malabsorption. Careful nutritional management has a dramatic effect on growth and survival rates in CF. Appropriate nutritional support includes pancreatic enzyme replacement therapy, a high-fat/high-energy diet and essential nutrient supplementation, specifically fat-soluble vitamins and essential fatty acids (EFA). Long-term studies are required to examine the effects of nutritional interventions on key clinical outcomes in CF, such as the rate of decline of lung function. The use of circulating markers to assess the influence of nutritional therapy allows short-term intervention studies to predict the potential for clinical improvements. This article provides an overview of the biomarkers useful in the prediction of the efficacy of nutritional therapy on improvements in quality and quantity of life in CF.

Cystic Fibrosis↗

PubMed2006

[Echocardiographic assessment of cor pulmonale in patients with cystic fibrosis].

Cystic fibrosis (CF) is an inherited multisystem disorder, characterized mainly by obstruction and infection of airways and by maldigestion and its consequences. An increasing interest concerning patients suffering from CF has been observed. Aim of this study was echocardiographic study of morphological structure, functional index and the grade of pulmonary hypertension in patients with CF. In 45 patients aged 3 to 24 years (mean 15.1 years) echocardiography was performed. Right ventricular end-diastolic dimension (RVDd) was increased in 67% of patients, right ventricular anterior wall thickness (RVAWd) was increased in 71% of patients. Pulmonary artery pressure was abnormally high in 84% of CF patients. Significant correlations between RVDd, RVAWd, PAP and Shwachman-Kulczycki clinical score was found. The dimensions of the left ventricular cavity were abnormal in 22% of patients. Insufficiency of pulmonary valve was observed in 47% of CF patients and tricuspid insufficiency in 53%. This study demonstrates that: 1) changes occurs mainly in right ventricle and appear to worsen as the disease progresses, 2) all patients with CF should remain under cardiological control, 3) echocardiography could be a useful method of long-term monitoring patients with CF.

Adolescent↗