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PubMed2001

Inpatient care of the adult with an exacerbation of cystic fibrosis.

Patients with cystic fibrosis (CF) are living longer, albeit with chronic and progressive lung disease. Pulmonary exacerbations in CF are characterized by an increase in respiratory symptoms and a decrease in pulmonary function and gas exchange. Exacerbations that do not respond to outpatient management require hospitalization. Complications of CF can be devastating and life-threatening. Care of these patients is challenging not only because of the scope and severity of their medical problems, but also because of the need to coordinate services and to maintain continuity during transitions between hospital and home.

Adult↗

PubMed2002

Growth hormone treatment in children with cystic fibrosis.

Children with cystic fibrosis (CF) have problems with poor linear growth and inadequate weight gain. Nutritional augmentation has been the mainstay of therapy for improving both weight and height in CF; however inadequate growth continues to be a problem. Furthermore, protein catabolism has been documented even in non-acutely ill adults and children with CF, and could adversely affect longitudinal growth. Human recombinant growth hormone (GH) has positive effects on nitrogen balance, and multiple studies have demonstrated improved height and weight in children treated with GH. The purpose of this article is to summarize studies evaluating GH use in children with CF.

Adolescent↗

PubMed2006

'Peeling paint' dermatitis as a presenting sign of cystic fibrosis.

Presentation of cystic fibrosis with a rash is rare, with only 19 previously reported cases. This unusual presentation is associated with false negative sweat tests, delays in diagnosis and considerable mortality. Multiple nutritional deficiencies, the aberrant production of prostaglandins and free-radical mediated damage have been implicated in the pathogenesis of this kwashiorkor-like dermatitis. In spite of the rarity of this presentation, recognition of the rash is important, not only to expedite the diagnosis, but also to gain insight into the disease. We present a further case to highlight this unusual presentation and discuss potential pathophysiological mechanisms.

Cystic Fibrosis↗

PubMed1987

Lipid composition of milk from mothers with cystic fibrosis.

Milk lipids from six mothers with cystic fibrosis were compared with milk lipids from six mothers without cystic fibrosis. Mean neutral lipids (in g/dL) were colostrum, 2.4; transitional, 2.9; mature milk, 2.9, suggesting that milk fat content was sufficient to support energy needs of the infant. Lipid class composition was normal, 98% being present as triglyceride. Cholesterol and cholesteryl ester concentrations were similar in the milk of both groups of lactating women. Phospholipid class distribution of cystic fibrosis milk was different from that in control milk. Approximately 85% of the lipids were present in six major fatty acids from 12:0 to 18:2 in both groups, indicating that the profile of most of the lipid was similar. The linoleic acid content of cystic fibrosis milk was decreased significantly to 75% of normal values. Other polyunsaturated fatty acids were elevated in cystic fibrosis milk. Concentrations of 16:2, 18:3, and several longer chain polyunsaturated fatty acids were twice that in the milk of the control women, suggesting increased delta 6-desaturation. Elevated proportions of several other polyunsaturated fatty acid metabolites suggested increased chain elongation to C20 and C22 polyunsaturated fatty acids. These differences in fatty acid patterns in cystic fibrosis milk were similar to differences found in blood lipid patterns of children with cystic fibrosis. These results suggest abnormal polyunsaturated fatty acid nutrition or metabolism in cystic fibrosis.

Cholesterol↗

PubMed1990

Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families.

Spanish cystic fibrosis (CF) families (n = 194) have been analysed for the delta F508 mutation, and for closely linked DNA markers. The delta F508 mutation accounts for 50% of CF chromosomes. Four haplotypes are associated with the deletion, and at least seven haplotypes carry other mutations. The second major CF mutation is associated with pancreatic insufficiency and occurred in the same haplotype in which the delta F508 arose. Only 31% of Spanish CF patients with no family history of the disease can be accurately diagnosed; about 50% of CF carriers can be detected in the Spanish population.

Chromosome Deletion↗

PubMed1998

Pancreatic diseases (excluding cystic fibrosis).

Except for cystic fibrosis, which is the most frequent genetic disorder in the Caucasian population, diseases of the exocrine pancreas are relatively uncommon in children. However, they are many and varied in terms of their pathogenesis and clinical manifestation. They can be classified as: (1) congenital anatomical abnormalities, (2) congenital secretory insufficiencies, and (3) pancreatitis. In all of these diseases, when pancreatic insufficiency (whether partial or complete) is present, the nutritional status of the patients must be investigated regularly, and pancreatic enzymes as well as nutritional supplementations must be prescribed as soon as malnutrition is present, or even prophylactically. The preservation of good nutritional status is the guarantee of a better prognosis.

Child↗

PubMed1990

The deletion F508 is the major gene mutation in a representative Belgian cystic fibrosis population.

The cystic fibrosis (CF) gene deletion F508 was studied in a Belgian population of 74 families and their 83 CF children. The haplotypes for CF and normal chromosomes had previously been determined with several linked DNA probes. In our CF population, the gene deletion F508 was found in 76% of the mutant alleles. Of the deletion F508, 97% segregated with the highest risk haplotype for the CF carrier status. Some 61% of our families were found to be homozygous for this major CF mutation. Each of our three pancreatic sufficiency patients (two of whom were siblings) was heterozygote for the F508 deletion.

Belgium↗

PubMed1995

Cystic fibrosis gene therapy.

Cystic fibrosis is a common severe autosomal recessive genetic disease which is caused by dysfunction of an epithelial cell surface cAMP activated Cl- channel. The effects of this dysfunction are pleoitropic but the human morbidity results from the effects in the respiratory epithelium. Gene therapy is an attractive possible treatment, the gene required is well characterised and only low-level expression is required. The cellular target is accessible and the clinical effects of treatment should be readily assayable. This chapter reviews current proposals for suitable gene delivery mechanisms and vectors and discusses the clinical trials, the results from the first of which are now becoming available.

Animals↗

PubMed2002

Growth problems and growth hormone treatment in children with cystic fibrosis.

Children with cystic fibrosis (CF) typically demonstrate poor linear growth and, despite aggressive nutritional supplementation, suboptimal weight gain. Growth velocity may be particularly blunted during puberty, a finding that occurs independently of clinical status or sex steroid levels. Several studies indicate that growth hormone (GH) treatment may be associated with significant improvement in both height velocity and weight gain in children with CF. These findings may translate into improvements in clinical status. In our experience, improved growth and weight status have been associated with fewer hospitalizations, fewer antibiotic courses, and improved pulmonary function. A large multicenter trial is currently underway to assess the effect of long-term therapy with GH on the quality of life and pulmonary status.

Adolescent↗

PubMed1977

The variability of skin test hypersensitivity reactions in cystic fibrosis and asthma.

Cystic fibrosis (CF) children had a greater variability of skin prick test response compared with asthmatic children, when the tests were performed on two occasions. This suggests that there is a different cause for the allergy in the two groups, perhaps because the asthmatics have a transient period of susceptibility to sensitization in infancy and the CF children a persistent vulnerability. Amongst the asthmatic children, clinical improvement was associated with loss of some skin prick test reactions, and clinical deterioration with an increase in the number of positive reactions. Thus continuing allergic reactions may maintain a mucosal defect, resulting in a persistence of susceptibility to allergen sensitization, and control of the reactions may re-establish normal mucosal defence mechanisms.

Adolescent↗

PubMedDate not supplied

Fatal disseminated aspergillosis in a previously well young adult with cystic fibrosis.

Patients with cystic fibrosis (CF) are often colonized by Aspergillus species in their respiratory tract but rarely develop infection with this fungus. A young woman with CF who had mild pulmonary involvement and who was in good health developed a fulminant illness presenting as brainstem infarction and simulating thrombotic thrombocytopenic purpura. At necropsy she was found to have disseminated aspergillosis and a depletion of lymphocytes in the thymus-independent zone of splenic follicles. This unique case may be an unusual expression of abnormal T-cell function and the paradoxical histopathologic findings may relate to the disturbance in humoral immunity in children with CF recently described by Matthews et al.

Adult↗

PubMedDate not supplied

Visual and somatosensory evoked potentials in vitamin E deficiency with cystic fibrosis.

Patients with cystic fibrosis (CF) and pancreatic malabsorption frequently have vitamin E deficiency. Affected patients may develop spinocerebellar degeneration with dysarthria, ataxia, proximal weakness, proprioceptive loss and areflexia. Of a highly selected group of 10 patients with vitamin E levels below 5 micrograms/ml (normal 5-20 micrograms/ml), 7 had abnormal neurological examinations, predominantly affecting vibration and joint position perception with some severely affected patients manifesting diminished visual acuity, tremor, ataxia and diffuse weakness. Evoked potential studies showed marked abnormalities in 3 patients, demonstrating deficits in the optic pathways and in the cervical cord dorsal column pathways. Evoked potential studies may supplement careful neurological examination in patients with CF before and after supplementation with vitamin E to evaluate their progression and response to treatment.

Adolescent↗

PubMedDate not supplied

Intestinal retinol esterification and serum retinol in children with cystic fibrosis.

Children with cystic fibrosis (CF) often have a poor vitamin A status. We found in the present work a reduced level of serum retinol in older children with this disease. As retinol enters intestinal lymph as retinyl esters, the enzyme acyl-CoA:retinol acyltransferase (ARAT) may be of importance for retinol absorption. We have assayed ARAT activity in duodenal mucosal homogenate from children with CF. There was a large variation within the group. However, mean ARAT activity was not significantly decreased, as compared with controls. Thus, the lack of pancreatic enzymes probably is the main reason for reduced vitamin A absorption in CF. In celiac disease and in lactose intolerance--both mucosal disorders--a significant reduction of mean ARAT activity was found.

Acyltransferases↗

PubMedDate not supplied

Ethnic intermarriage and its consequences for cystic fibrosis carrier screening.

Cystic fibrosis gene mutations can vary in frequency between different ethnic populations. However, there is a rising trend of ethnic intermarriage in the United States, a situation suggesting that differences in specific mutation frequencies currently apparent in Europe may not persist for long in this country. Therefore, limited mutation screens targeted at specific ethnic groups and risk calculations based on data from more homogeneous European populations may not be appropriate in the United States. The genetic consequences of ethnic admixture are also likely to extend to other recessive diseases (e.g., Tay-Sachs, thalassemia), which, in the past, have been limited largely to particular ethnic, racial, or religious subgroups, with implications for public health agencies overseeing newborn screening programs for genetic diseases and for clinical genetics programs offering population-based carrier-detection programs, carrier risk assessment, and counseling.

Cystic Fibrosis↗

PubMed2000

Questionnaire survey of male infertility in cystic fibrosis.

Most male cystic fibrosis (CF) patients are infertile due to obstructive azospermia but little is known about the best time to counsel patients on infertility. All male patients attending the Adult Nottingham CF unit were invited to complete an anonymous questionnaire on infertility. The response rate was 60%. The median age that the patients first became aware of male infertility was 17 years (range 13-24) but the preferred age of receiving this information was 14 years (range 8-16). Patients first learnt about male infertility from the CF team (six patients), parents (five), from written information (two) or unexpectedly (five). Five out of 18 patients had undergone seminal analysis at a median age of 26 years but 17/18 patients felt that this should be offered routinely. Our survey has shown that patients would like infertility discussions at a younger age and routine seminal analysis.

Adolescent↗

PubMedDate not supplied

Inflammatory mediators in cystic fibrosis lung disease.

Cystic fibrosis (CF) is a complex multisystem disorder caused by mutations in a membrane glycoprotein called the CF transmembrane regulator (CFTR), which has as its major function serving as a Cl- channel. The relationship between defects in CFTR and development of lung disease remains incompletely understood. Chronic lung disease, characterized by persistent infection with a peculiar type of Pseudomonas aeruginosa, bronchiectasis, and airway obstruction is the major cause of morbidity and mortality in CF patients. The inflammatory response to the chronic infection resembles that induced by lipopolysaccharide (LPS) and is mediated primarily by cytokines such as tumor necrosis factor (TNF), interleukin-1 (IL-1), IL-6, and IL-8, whose synthesis is activated by the transcription factor nuclear factor kappa B (NF-kappa B). Large numbers of neutrophils dominate the inflammatory response and excessive concentrations of their products create a vicious cycle that becomes injurious rather than protective and eventually claims the life of the patient.

Cystic Fibrosis↗

PubMed1994

Intact splenic function in cystic fibrosis.

Patients with cystic fibrosis (CF) suffer from severe chronic pulmonary infections but rarely develop bacteremia/septicemia suggestive of an intact splenic mononuclear phagocyte function. The splenic function of 25 patients diagnosed with CF, aged 2 to 37 years, was evaluated using erythrocyte pit count by direct interference contrast microscopy. Results were compared with patients with sickle cell disease and normal individuals. All CF patients displayed normal splenic function by pit count. The mean percentage of pitted erythrocytes was 0.20 +/- 0.28 (range: 0.0% to 1.0%) versus 0.19 +/- 0.33 (range: 0.0% to 1.4%) in normal eusplenic controls. There were no episodes of bacteremia or septicemia despite recurrent acute exacerbations of chronic bacterial bronchitis and the use of central lines. We conclude that splenic function in CF is unabridged and may account for the rarity of bacteremia/septicemia in patients with CF despite the high prevalence of chronic bronchial infection in this population.

Adolescent↗

PubMed1998

Genomic DNA sequence of Rhesus (M. mulatta) cystic fibrosis (CFTR) gene.

Cystic fibrosis is a common human genetic disease caused by mutations in CFTR, a gene that codes for a chloride channel that is regulated by phosphorylation and cytosolic nucleotides. As part of a program to discover natural animal models for human genetic diseases, we have determined the genomic sequence of CFTR in the Rhesus monkey, Macaca mulatta. The coding region of rhesus CFTR is 98.3% identical to human CFTR at the nucleotide level and 98.2% identical and 99.7% similar at the amino acid level. Partial sequences of flanking introns (5582 base pair positions analyzed) revealed 91.1% identity with human introns. Relative to rhesus intronic sequence, the human sequences had 27 insertions and 22 deletions. Primer sequences for amplification of rhesus genomic CFTR sequences are provided. The accession number is AF013753 (all 27 exons and some flanking intronic sequence).

Amino Acid Sequence↗