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PubMed1998

[Cystic fibrosis].

Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Causcasian populations, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which encodes a protein that functions as a chloride channel in the apical membrane of epithelial cells. The clinical manifestations comprise recurrent and chronic bronchopulmonary infections, pancreatic insufficiency, and hidrotic salt depletion. Such complications as diabetes, cirrhosis, and respiratory insufficiency develop, resulting in death in the absence of lung transplantation. Treatment is aggressive and comprehensive from the time of diagnosis. Early and intensive treatment of bacterial colonisation and lung infection is correlated with improved prognosis, and monthly follow-up at a CF Centre is mandatory. Mean survival among CF patients at the Danish CF Centre i Copenhagen is more than 40 years. Clinical trials of gene therapy are under way, but results to date have been disappointing.

Chromosome Aberrations↗

PubMed1996

Nursing management of adults who have cystic fibrosis.

Cystic fibrosis has ceased to be a terminal illness for children and has become a chronic disease affecting both children and adults. Life expectancy, already over 29 years, is increasing with new therapeutic interventions. Pathophysiology, assessment, and treatment information is presented here to assist adult health nurses in caring for patients with cystic fibrosis.

Adult↗

PubMed2002

Digestive system involvement in cystic fibrosis.

Cystic fibrosis is a hereditary disease well known to paediatricians. Over recent years, its prevalence among the adult population has dramatically increased; thus becoming a disease increasingly seen in adult practice. Cystic fibrosis is a multi-organ disease, with a wide spectrum of clinical manifestations involving many organs. The aim of this article is to review the digestive system manifestations of this disease: the involvement of the gastrointestinal tract, liver, biliary system and pancreas, with a special emphasis on the adult population.

Biliary Tract↗

PubMed1989

The hypervitaminosis-A rat: a model for mucin hypersecretion in cystic fibrosis?

Cystic fibrosis is a devastating disease with pathognomonic features typically displayed in the exocrine system. An obvious drawback with human clinical studies of the disease is the relative inaccessibility of its "target-tissues," i.e., the salivary glands, intestine, pancreas, and tracheobronchial tree. Thus, little is known about its underlying cellular mechanisms. For this reason, physiologically relevant animal models for the disease are vitally needed. At present, there are animal models available for certain salivary gland biochemical aspects of the disease and for bicarbonate ion secretory alterations. However, no adequate model exists for excessive mucus production, an aspect of the disease which sets the stage for life-threatening infections and digestive disorders. This manuscript examines morphological and biochemical changes occurring in various biological systems exposed to high levels of vitamin A and correlates such changes with abnormalities commonly seen in cystic fibrosis.

Animals↗

PubMed2002

Clinical findings and lung pathology in children with cystic fibrosis.

Cystic fibrosis pulmonary disease is assessed by pulmonary function tests, arterial blood gases, and chest X-rays, but the correlation with lung pathology is unknown. We reviewed the clinical findings and lung pathology of 21 cystic fibrosis patients who had lung transplant. Pulmonary function tests, Brasfield scores, arterial blood gases, and age were correlated with lung pathology. All patients had severe Brasfield scores (9.0 +/- 3.2), airways obstruction (FEV1 25.6 +/- 5.6% predicted, FEF(25-75%) 11.0 +/- 4.5% predicted), and hyperinflation (residual volume [RV] 341.8 +/- 75.8% predicted). All patients were hypoxemic (PO2 64.2 +/- 8.2 mm Hg), and 5 of 21 (24%) were hypercapneic (PCO2 > 50 mm Hg). Pulmonary function tests and Brasfield scores were within a narrow range, and did not allow correlation with lung pathology. Small airway density (airways < 2 mm/cm2) decreased with increasing age. There were no differences in small airways inflammation and fibrous narrowing between the hypercapneic and nonhypercapneic patients, but the percent of smallest airways (airways < 0.35 mm) was significantly lower in the hypercapneic group. We conclude that there is significant correlation between airway pathology and increased age and CO2 retention. We speculate that decreased small airway density in older patients and the decreased proportion of smallest airways in hypercapneic patients is caused by increased dilatation of small airways.

Adolescent↗

PubMedDate not supplied

[Orocraniofacial changes in young subjects with cystic fibrosis].

Cystic Fibrosis is a lethal genetic disorder affecting the respiratory, gastro intestinal, exocrine end reproductive systems. From the orthodontic point of view, respiratory changes are of great interest. In fact, cephalometric tracings and cast analysis on 20 subjects with Cystic Fibrosis have revealed changes at the orofacial structures, strictly related to the respiratory dysfunctions. They can be summarized as: mesial shifting of the maxilla, dimensional increase of the mandibular body, ovoidal upper arch with a deeper palatal vault, tapering or trapezoidal lower arch. Even if causes can be hardly distinguished from effects, the role of the juvenile oral breathing in these cases seems to be any way undeniable with statistically significant results.

Cephalometry↗

PubMed1994

Recent advances in the treatment of cystic fibrosis.

Cystic fibrosis is a serious, common genetic condition that causes recurrent pulmonary infections, malabsorption, and increased sweat electrolytes. Despite significant improvements in clinical treatment, individuals continue to die from progressive, obstructive pulmonary disease as children and young adults. This article reviews the current status of our understanding of cystic fibrosis: the basic defect, animal models, current therapy, and new approaches to the pulmonary disease.

Amiloride↗

PubMed2001

[Neonatal cholestasis associated with liver failure as a clinical manifestation of cystic fibrosis].

Cystic Fibrosis is the most frequent hereditary disease in Caucasians. Its clinical presentation may be very variable. Neonatal cholestasis is a typical but rare primary clinical manifestation that usually occurs in the first 3 weeks of life. It is often associated with meconium ileus. We present the case of an infant with cystic fibrosis whose primary clinical manifestation was cholestasis and liver failure at the age of 6 weeks.

Cholestasis↗

PubMed1993

[Gene therapy perspectives in cystic fibrosis].

Cystic fibrosis (CF) is a frequent autosomal recessive genetic disease. The isolation of the gene at the CF locus assigned to the long arm of chromosome 7 band q 31 and defining description of its protein named CFTR (cystic fibrosis transmembrane conductance regulator) promoted understanding the basic biochemical defect. Brief review of relevant literature demonstrates that glycoprotein CFTR is a chloride channel and is activated by a combination of phosphorylation by protein kinase A and binding of ATP. Most common mutation of CF gene, a deletion of the three nucleotides encoding phenylalanine (Delta F508) results in disturbance of chloride transport through membrane of epithelial cells involved in pathomechanism of CF. The way for gene therapy in CF is open, however therapeutic progress is noted on both pharmacologic arena and on the gene cure front. Recombinant vectors utilizing the adenovirus system with high efficiency of CFTR gene transfer to airway epithelium demonstrated in a rat model look promising. The use of retroviruses for CFTR transfer is also advanced mode of somatic gene therapy. An alternative approach suggesting the use of germ line cells is prerequisite of the development of the preimplantation/preconception genetic CF diagnosis. A number of safety and efficacy issues have to be addressed for all approaches before human trials can be implemented.

Animals↗

PubMed1996

[Acute pancreatitis in cystic fibrosis].

Cystic fibrosis is the most prevalent hereditary disease in the Caucasian race. It is a multisystemic alteration that affects the quality and quantitative properties of exocrine secretions. The pancreas develops a progressive atrophy causing steatorrhoea and nutritive deficiencies. Acute pancreatitis is an unusual complication. The pancreatic atrophy prevents the inflammatory response. Published series suggest that pancreatitis in 0.5%, including patients without pancreatic insufficiency. We present two cases with cystic fibrosis, with and without pancreatic insufficiency, who developed acute pancreatitis.

Acute Disease↗

PubMed2002

Therapy with macrolides in patients with cystic fibrosis.

Cystic fibrosis affects 1/2500 individuals and is the most common lethal autosomal recessive disease in people of northern European descent. It is characterized by chronic infections with mucoid Pseudomonas aeruginosa and progressive deterioration of respiratory function. Much research has focused on the inflammatory component of the disease. Macrolide antibiotics are postulated to suppress inflammatory mediators and interfere with biofilm formation produced by P. aeruginosa. In vitro studies show promising results, and a limited number of human studies reported improvements in respiratory function with the drugs. Macrolide antibiotics are generally safe and well tolerated and may prove to be effective in patients with cystic fibrosis.

Animals↗

PubMed2002

Cystic fibrosis.

Cystic fibrosis is the most common lethal inherited disorder with autosomal recessive inheritance. Major progress has been made in understanding the molecular mechanisms leading to increased susceptibility to Pseudomonas aeruginosa colonization. Persistent respiratory infection with P. aeruginosa leads to progressive pulmonary inflammation and is the major cause of morbidity and mortality. Treatment and prophylaxis of respiratory infection has improved the median survival and quality of life of cystic fibrosis patients. In the future, treatment of the underlying genetic defect may be possible.

Anti-Bacterial Agents↗

PubMed1993

[Conditions and limitations of healthy carrier screening for the mutation responsible for cystic fibrosis].

Cystic Fibrosis is an autosomal, recessive and lethal disease which affects one newborn in 2500 in most of European countries. The gene has been cloned and most of the deleterious mutations have been identified. This has led to a complete change in attitude to cystic fibrosis from a public health standpoint. Prenatal diagnosis is now available for couples of carriers (each unaffected parent carrying a deleterious mutation) with a 1/4 risk of having an affected newborn. Prenatal diagnosis can be performed through three different but complementary procedures with an overall reliability of 98%. As these couples at risk are identified by a first affected newborn, prenatal diagnosis may only prevent further ones. General screening of carriers would be valuable from a public health standpoint, for it could prevent the first affected newborn and would decrease very much the incidence of the disease. Such carrier screening is theoretically feasible through the direct analysis of identified deleterious mutations of the gene in the DNA of both parents, before any pregnancy. However there are major obstacles to general screening. On the one hand unidentified mutations are still numerous, except in certain populations, so screening is not perfect. On the other hand, the larger the number of tested mutations (and thus the better the efficiency of screening), the more expensive the procedure. New and cheaper screening technologies are therefore required but as yet unavailable. Moreover, due to the genetic variability within human populations, reliable screening can only be performed within certain homogeneous ethnic sub-populations. This limitation may raise ethical and public health questions.

Cystic Fibrosis↗

PubMedDate not supplied

Advances in the treatment of cystic fibrosis.

Cystic fibrosis is an autosomal recessive disease, characterised by pancreatic insufficiency, abnormal viscous mucus secretions and chronic respiratory tract infections. Treatment is with pancreatin preparations to improve intestinal digestion of food, but the use of high-potency products requires care. Postural drainage and other physiotherapeutic measures are essential to the relief of respiratory obstruction. A new approach to the respiratory problems of cystic fibrosis is dornase alpha, a mucolytic enzyme given by inhalation. Gene therapy may eventually provide the definitive answer to treatment and is already on the therapeutic horizon, but many practical problems remain to be solved.

Cystic Fibrosis↗

PubMed1992

New possibilities for population control of cystic fibrosis.

Cystic fibrosis (CF), which is caused exclusively by mutation of a single gene, is inherited in autosomal recessive fashion and is the commonest such disorder in populations of Caucasian origin. Although much progress has been made during the last 50 years in its clinical management, with a corresponding improvement in the mean life expectancy in developed countries from a few months to a few decades, it remains incurable and a complete understanding of its biochemical basis is still being sought. Consequently, attention has been given to the possibility of screening for carriers of the defective gene, who represent up to 5% in some populations, so that they may be given appropriate genetic counselling. Whereas previously carriers were identified only when they became parents of affected children, in recent years carriers who were more distantly related to CF patients have often been identified by means of genetic linkage techniques. A new strategy for the control of CF at the population level is now proposed. It is based on the report of a joint WHO/ICF(M)A (International Cystic Fibrosis (Mucoviscidosis) Association) Task Force on CF which met in November 1990.

Cystic Fibrosis↗

PubMed2004

Edema, anemia, hypoproteinemia, and acrodermatitis enteropathica: an uncommon initial presentation of cystic fibrosis.

Cystic fibrosis is a genetic disorder characterized by chronic obstructive pulmonary disease, pancreatic exocrine deficiency, and abnormally high sweat electrolyte concentrations. Less frequently, the presenting features in infants may include edema, anemia, hypoproteinemia, and acrodermatitis enteropathica. Liver involvement may produce hepatomegaly and mild elevation of transaminases. This clinical symptom usually presents within the first 6 months of life and is associated with a high morbidity and mortality. Early recognition and institution of appropriate nutritional supplementation and pancreatic enzymes is essential to improve outcome. Since the sweat test may be falsely negative, emergency physicians must maintain a high index of suspicion to make the diagnosis of cystic fibrosis in an infant who presents with edema, anemia, hypoproteinemia, and acrodermatitis enteropathica.

Acrodermatitis↗

PubMed1995

DNase trials in cystic fibrosis.

Cystic fibrosis (CF) is a disease with a high morbidity and mortality from pulmonary disease. Sputum from CF patients contains high levels of deoxyribonucleic acid (DNA), which contribute to its viscoelasticity. Recombinant deoxyribonuclease (rhDNase) has been developed and in vitro studies have showed reduction in the viscoelasticity of CF sputum. This article reviews the in vivo clinical trials conducted to determine the safety and efficacy of this treatment. Phase 1 studies showed preliminary safety data and some evidence of clinical benefit. The two Phase 2 short-term studies showed improvement in pulmonary function and important safety data. The Phase 3 study, which included 968 patients, showed improvement in forced expiratory volume in one second (FEV1) of 5.8% and 5.6% in patients treated once and twice daily, respectively. The risk of developing an exacerbation of infection was reduced by 28% with once daily and 37% with twice daily treatment, compared to placebo. The drug was safe and there was some improvement in quality of life data. Longer-term open labelled studies, the results of intermittent administration, administration to severely ill patients, and the use of different delivery systems are reviewed. In conclusion, recombinant deoxyribonuclease is a new treatment which has been shown to benefit patients with cystic fibrosis when used in conjunction with conventional treatment.

Clinical Trials as Topic↗

PubMed1999

[Respiratory insufficiency amd pregnancy in cystic fibrosis].

Cystic fibrosis is one of the most serious genetic disorders. The survival and the quality of life of our patients have also been improved in the last decade. The number of patients entering the reproductive age is increasing. The young women in good somatic condition may undertake pregnancy. The desire for a full life and for a child may arise at patients with respiratory insufficiency too. Authors list the maternal and fetal risks of the pregnancy in cystic fibrosis by a case report. As a result of multidisciplinary team work a boy was born. The mother died in progressive and uninfluencable respiratory insufficiency being on waiting-list for lung transplantation 15 months after the delivery.

Cystic Fibrosis↗