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PubMed1986

Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis.

Prenatal diagnosis of cystic fibrosis was performed in 200 pregnancies with a 1-in-4 risk, and was based on significant modifications in amniotic fluid taken at 17, 18, 19 weeks of pregnancy, of six enzymatic assays: gamma-glutamyl-transpeptidase, aminopeptidase M, and alkaline phosphatase (total and isoenzymes). On the basis of normal values, normal outcome was predicted in 135 pregnancies reaching term, all the babies were normal. On the basis of significantly abnormal enzymatic values, an affected fetus was predicted in 56 pregnancies, 53 were terminated, and 3 went to term; the infants were affected. There were discrepancies in enzymatic values in nine cases, in eight cases normal outcome was predicted, six babies were normal and two were affected; in one case an affected baby was predicted, the pregnancy went to term and the baby is normal. Criteria giving evidence for cystic fibrosis in fetuses have been described: macroscopic observation of a typical meconium ileus, significant increase of albumin content in the meconium, and PAS-positive mucus-like material in some pancreatic acini. Using these criteria, diagnosis of cystic fibrosis has been confirmed in all the examined fetuses. The recurrence rate of cystic fibrosis was 22.5% in 147 diagnoses in which the index case had cystic fibrosis without a history of meconium ileus at birth, but was 47.5% when the index case had meconium ileus. The results of the study suggest that prenatal diagnosis of cystic fibrosis can be performed with an accuracy of 98%.

Amniocentesis↗
PubMed2002

Prevalence and outcome of pregnancies in Norwegian and Swedish women with cystic fibrosis.

BACKGROUND: As patients with cystic fibrosis now live longer, more women with cystic fibrosis wish to become mothers. We looked at the prevalence and outcome of pregnancies in women with cystic fibrosis who were alive in Norway and Sweden in the year 2000. METHODS: Women with cystic fibrosis aged 18 years and older attending cystic fibrosis centers in Norway and Sweden were included in the study. Information was obtained from medical records, interviews and questionnaires. RESULTS: One hundred and thirty-two women with cystic fibrosis were included. Sixty-one (46%) had considered or were now considering pregnancy. Forty-six (75%) of these 61 women had already conceived. Eighty pregnancies were reported, including 12 (15%) conceived by assisted reproductive techniques. There were eight (10%) induced abortions, 11 (14%) miscarriages, and one extrauterine pregnancy. The remaining 60 (75%) pregnancies resulted in live born infants. CONCLUSIONS: Today women with cystic fibrosis have a better chance of getting pregnant than previously reported. In this study, 75% of those who wanted to get pregnant had succeeded. Fifteen percent of pregnancies were conceived by artificial reproductive techniques. The possibility of motherhood must be considered in these patients. It is important to plan pregnancies with optimal follow up by a cystic fibrosis team.

Abortion, Induced↗
PubMed2002

In vitro expression of fas and CD40 and induction of apoptosis in human cystic fibrosis airway epithelial cells.

Cystic fibrosis is characterized by a damaged airway epithelium with inflammation and chronic infection. The aim of this study was to investigate the process of apoptosis in this disease. To evaluate the effects of interferon gamma and the Fas apoptotic pathway on cystic fibrosis airway epithelial cells, we used immortalized cystic fibrosis (CFT-1 and CFT-2) and normal (NT-1) human tracheal epithelial cell lines. Cell death was determined usingannexin-V/propidium iodide labelling and electron microscopy. In vitro expression of Fas and CD40 surface antigens was analysed by immunofluorescence staining and flow cytometry. Normal and cystic fibrosis cells constitutively express these antigens. CD40, but not Fas expression, was upregulated by interferon gamma. Treatment of interferon gamma-stimulated cells with anti-Fas resulted in apoptosis for about 80% of CFT-2 (homozygous for delta F508 deletion) cells and for 35-40% of CFT-1 (heterozygous) or normal cells. Our results suggest that Fas may mediate apoptosis in cystic fibrosis airway epithelium.

Antibodies, Monoclonal↗
PubMed1985

The distinctly visible right upper lobe bronchus on the lateral chest: a clue to adolescent cystic fibrosis.

Radiographic differentiation between cystic fibrosis and asthma presenting in teenagers and young adults can be difficult. Many patients with a late presentation of cystic fibrosis display minimal changes on a chest radiograph. However, a large majority (90%) of cystic fibrosis patients with an essentially normal PA chest radiograph will have a distinctly outlined orifice of right upper lobe bronchus on a lateral chest film as opposed to a small number of asthmatics (25%) or normal patients (18%). This observation correlates well with the pathologic finding that the initial pulmonary involvement in cystic fibrosis is typically in the right upper lobe in adolescents. Teenage or young adult patients presenting with a history of repeated respiratory infections, asthma-like symptoms and a distinctly visible right upper lobe bronchus on a lateral chest film should be sweat-tested to exclude cystic fibrosis.

Adolescent↗
PubMed2003

[Indications and modalities of assisted reproductive techniques in infertile women with cystic fibrosis].

OBJECTIVE: To treat cystic fibrosis women who failed to conceive. PATIENTS AND METHODS: Multidisciplinary coordinated approach in 20 infertile women affected with cystic fibrosis. Advisability of pregnancy was based on the assessment of pulmonary and nutritional status, risks of maternal health deterioration, infertility factors, risk of cystic fibrosis in the offspring. Assisted reproductive techniques in moderately affected women are described. RESULTS: Three patients requested only information, three were discouraged, two are still evaluated, 12 were treated and three delivered healthy children. The pulmonary status of each patient remained unchanged 36 months after delivery, and all three children remain healthy. DISCUSSION AND CONCLUSION: Assisted reproductive techniques are an option in moderately affected infertile cystic fibrosis women. Advisability and management of pregnancy should be provided by a coordinated team of healthcare professionals with knowledge and experience in cystic fibrosis.

Adult↗
PubMed1994

Defective fluid transport by cystic fibrosis airway epithelia.

Cystic fibrosis (CF) airway epithelia exhibit defective transepithelial electrolyte transport: cAMP-stimulated Cl- secretion is abolished because of the loss of apical membrane cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channels, and amiloride-sensitive Na+ absorption is increased two- to threefold because of increased amiloride-sensitive apical Na+ permeability. These abnormalities are thought to alter respiratory tract fluid, thereby contributing to airway disease, the major source of mortality in this genetic disease. However, the underlying hypothesis, that fluid transport is abnormal in CF airway epithelia, has not been tested. Most conjecture about fluid transport is based on measurements of Na+ and Cl- transport performed under short circuit conditions in Ussing chambers. But such studies differ from in vivo conditions in that transepithelial voltage and mucosal fluid composition are held constant. Therefore, we measured fluid transport and mucosal electrolyte composition in primary cultures of CF airway epithelia without holding transepithelial voltage and ion concentration gradients at zero. In normal epithelia, cAMP agonists plus amiloride stimulated NaCl and fluid secretion. In CF epithelia, cAMP agonists failed to stimulate fluid or electrolyte secretion, changes consistent with the loss of CFTR Cl- channels. But in striking contrast to predictions based on Ussing chamber studies, CF epithelia absorbed fluid at a rate no greater than normal epithelia. Moreover, amiloride, which inhibits Na+ channels, failed to inhibit fluid absorption by CF epithelia. These results have important implications for understanding the pathogenesis of CF airway disease and for the design and evaluation of therapy.

Amiloride↗
PubMed1993

Cystic fibrosis: the disease.

Cystic fibrosis is an inherited disease affecting mainly the Caucasian population. In recent years there have been major advances in understanding the genetics and pathophysiology of the disease. Cystic fibrosis affects many organs, but predominantly the respiratory system and alimentary tract. Current treatment including chest physiotherapy, antibiotics, good nutrition and enzyme therapy, together with the complications of the disease are described. Even with the best modern treatment there is still a significant morbidity and mortality. New advances in treatment, which offer hope for the future, are explored.

Cystic Fibrosis↗
PubMed1989

Defective epithelial ion transport in cystic fibrosis.

In America, cystic fibrosis (CF) is the most common fatal inherited disease. In the past few years new concepts have evolved regarding the etiology of CF, changing from an almost universal acceptance of the abnormality as a disease of abnormal mucus production to that of a disease of abnormal fluid and electrolyte transport. Although mucus production is increased, this probably occurs as a secondary defense or protection against more primary disturbances in electrolyte transport brought on by a defect in Cl- permeability that affects both fluid absorption and fluid secretion. Here I review the progress that has been made and some of the puzzles uncovered in recent investigations of electrolyte transport in secretory and absorptive processes in cystic fibrosis.

Biological Transport↗
PubMed1978

A cephalometric study of patients with cystic fibrosis.

Children with cystic fibrosis have skeletal maturation and epiphyseal anomalies similar to those in children with nutritional problems. However, these patients have been found to have normal somatic development if treatment is begun early. In a group of children with cystic fibrosis undergoing medical treatment, cephalometric measurements compared favorably with those established by normal standards.

Adolescent↗
PubMed1987

Pulmonary abnormalities in obligate heterozygotes for cystic fibrosis.

Parents of children with cystic fibrosis have been reported to have a high prevalence of increased airway reactivity, but these studies were done in a select young, healthy, symptomless population. In the present study respiratory symptoms were examined in 315 unselected parents of children with cystic fibrosis and 162 parents of children with congenital heart disease (controls). The cardinal symptom of airway reactivity, wheezing, was somewhat more prevalent in cystic fibrosis parents than in controls, but for most subgroups this increased prevalence did not reach statistical significance. Among those who had never smoked, 38% of obligate heterozygotes for cystic fibrosis but only 25% of the controls reported wheezing (p less than 0.05). The cystic fibrosis parents who had never smoked but reported wheezing had lower FEV1 and FEF25-75, expressed as a percentage of the predicted value, than control parents; and an appreciable portion of the variance in pulmonary function was contributed by the interaction of heterozygosity for cystic fibrosis with wheezing. For cystic fibrosis parents, but not controls, the complaint of wheezing significantly contributed to the prediction of pulmonary function (FEV1 and FEF25-75). In addition, parents of children with cystic fibrosis reported having lung disease before the age of 16 more than twice as frequently as control parents. Other respiratory complaints, including dyspnoea, cough, bronchitis, and hay fever, were as common in controls as in cystic fibrosis heterozygotes. These data are consistent with the hypothesis that heterozygosity for cystic fibrosis is associated with increased airway reactivity and its symptoms, and that the cystic fibrosis heterozygotes who manifest airway reactivity and its symptoms may be at risk for poor pulmonary function.

Adult↗
PubMed1979

Altered polyamine metabolism in cystic fibrosis.

Children with cystic fibrosis excreted elevated urinary levels of all three polyamines--putrescine, spermidine, and spermine. Heterozygote parents excreted intermediate concentrations of the polyamines, but not levels significantly different from levels in normal controls. Patients with cystic fibrosis who were administered a tracer amount of [14C]spermidine excreted 11--13% of the radiolabel within 72 hr whereas normal controls excreted 60--76% of the radiolabel within 72 hr. Spermine excretion was positively correlated with increased pathology as assessed by the National Institutes of Health (NIH) clinical score, whereas urinary putrescine and spermidine levels were negatively correlated with increased pathology.

Adult↗
PubMed2002

Glutathione levels and BAX activation during apoptosis due to oxidative stress in cells expressing wild-type and mutant cystic fibrosis transmembrane conductance regulator.

Cystic fibrosis is characterized by chronic inflammation and an imbalance in the concentrations of alveolar and lung oxidants and antioxidants, which result in cell damage. Modifications in lung glutathione concentrations are recognized as a salient feature of inflammatory lung diseases such as cystic fibrosis, and glutathione plays a major role in protection against oxidative stress and is important in modulation of apoptosis. The cystic fibrosis transmembrane conductance regulator (CFTR) is permeable to Cl(-), larger organic ions, and reduced and oxidized forms of glutathione, and the DeltaF508 CFTR mutation found in cystic fibrosis patients has been correlated with impaired glutathione transport in cystic fibrosis airway epithelia. Because intracellular glutathione protects against oxidative stress-induced apoptosis, we studied the susceptibility of epithelial cells (HeLa and IB3-1) expressing normal and mutant CFTR to apoptosis triggered by H(2)O(2). We find that cells with normal CFTR are more sensitive to oxidative stress-induced apoptosis than cells expressing defective CFTR. In addition, sensitivity to apoptosis could be correlated with glutathione levels, because depletion of intracellular glutathione results in higher levels of apoptosis, and glutathione levels decreased faster in cells expressing normal CFTR than in cells with defective CFTR during incubation with H(2)O(2). The pro-apoptotic BCL-2 family member, BAX, is also activated faster in cells expressing normal CFTR than in those with mutant CFTR under these conditions, and artificial glutathione depletion increases the extent of BAX activation. These results suggest that glutathione-dependent BAX activation in cells with normal CFTR represents an early step in oxidative stress-induced apoptosis of these cells.

Amino Acid Substitution↗
PubMed2004

Toward the pharmacogenomics of cystic fibrosis--an update.

Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, with a frequency of approximately 1 in 3000 live births. The mutated gene is a defective chloride channel in epithelial cells, named cystic fibrosis transmembrane conductance regulator (CFTR). Several different protocols for the scanning of the entire gene have aided molecular diagnosis and improved our understanding of the disorder's pathophysiology, but also showed the disease's complexity. Therefore, CF phenotype remains difficult to predict from CFTR mutation data alone: several studies have suggested that additional genes could modulate its clinical outcome. Gene replacement therapy is still far from being used in patients with CF, mostly due to the difficulties with targeting the appropriate cells. In this review, we summarize recent advances, both in the pharmacological and gene therapy field, aimed for the treatment of the disease.

Cystic Fibrosis↗
PubMed1994

[Indirect genetic diagnosis of cystic fibrosis].

The diagnosis cystic fibrosis was made in a three years old girl. Her older brother and her mother's sister both had minor symptoms and signs suggestive of this disease. None of 17 mutations in the gene locus for cystic fibrosis was identified in the patient by DNA-analyses. By haplotype analyses her brother, but not her aunt, was shown to share the proband's haplotypes. This family is used as an example of the general diagnostic potential of indirect diagnosis of genetic disease by haplotype analysis. The prerequisite for haplotype analysis is the availability of DNA from both the patient and the patient's relatives, stressing the need for a DNA bank of material from persons with inherited disorders, for future use.

Child, Preschool↗
PubMed2005

Association of body composition and lung function in children with cystic fibrosis.

Survival in cystic fibrosis has improved significantly in the last 30 years, with major therapeutic goals of delaying the progressive loss of pulmonary function and maintaining normal growth. Dual-energy X-ray absorptiometry (DEXA) was performed in children with cystic fibrosis (CF) to assess both bone mineral density and body composition. We hypothesised that there would be an association between body composition and pulmonary function in children with CF. Fifty subjects with CF (28 males), mean age 12.7 years, participated in the study. Body composition was determined by DEXA. Body mass index (BMI) was calculated from the ratio of weight/height2 (kg/m2). Lung function was assessed by spirometry. Most patients (78%) had mild lung disease. The mean forced expired volume in 1 sec percent predicted (FEV1% predicted) for the 50 patients was 79.2% (range, 24-117%). There was a strong association between FEV1% predicted and BMI (R=0.59, P=0.0001). Fat-free mass had positive association with pulmonary function tests (R=0.30, P=0.03). Although fat mass showed a positive correlation with pulmonary function, this association did not reach statistical significance. In our group of children with CF and mild lung disease, pulmonary function was more strongly associated with BMI than with fat and fat-free mass.

Absorptiometry, Photon↗
PubMed1998

The ROMK-cystic fibrosis transmembrane conductance regulator connection: new insights into the relationship between ROMK and cystic fibrosis transmembrane conductance regulator channels.

The structure of ATP-sensitive K+ (KATP) channels in excitable cells has been elucidated recently. These channels consist of a pore-forming inward rectifier K+ (Kir) channel and four sulfonylurea receptor proteins. In the distal nephron, Kir 1.1 (ROMK) channels probably contribute to the formation of epithelial (KATP) channels. Current findings suggest the possibility that these renal KATP channels consist of Kir 1.1 channel-CFTR complexes and therefore represent structural analogues of classical KATP channels.

Adenosine Triphosphate↗