Cystic fibrosis symptoms

Although therapeutic approaches based upon gene therapy (Chapter 14) may well one day cure cystic fibrosis, current therapeutic intervention focuses upon alleviating cystic fibrosis symptoms, particularly those relating to respiratory function. Improved patient care has increased life expectancy of cystic fibrosis patients to well into their 30s. The major elements of cystic fibrosis management include ... [Pg.358]

Specific ion electrodes, similar in design to the glass electrode, have been developed to analyze for a variety of cations and anions. One of the first to be used extensively was a fluoride ion electrode that is sensitive to F- at concentrations as low as 0.1 part per million and hence is ideal for monitoring fluoridated water supplies. An electrode that is specific for Cl- ions is used to diagnose cystic fibrosis. Attached directly to the skin, it detects the abnormally high concentrations of sodium chloride in sweat that are a characteristic symptom of this disorder. Diagnoses that used to require an hour or more can now be carried out in a few minutes as a result, large numbers of children can be screened rapidly and routinely. [Pg.495]

A number of clinical symptoms characterize cystic fibrosis. Predominant among these is the presence of excess sodium chloride in cystic fibrosis patient sweat. Indeed, measurement of chloride levels in sweat remains the major diagnostic indicator of this disease. Another characteristic is the production of an extremely viscous, custard-like mucus in various body glands/organs that severely compromises their function. Particularly affected are ... [Pg.357]

While certain behavioral and nonbehavioral diseases are believed to be monogenic, diseases such as Huntington s, cystic fibrosis, Marfan, and Hirschsprung result in the specified disease, and the outward appearance or result (phenotype) of the disease varies between individuals. For instance, for Marfan syndrome, there is a level below which the mutant protein does not exhibit itself in an outward manner. Most of these diseases have modifier genes that cause modifications in the outward demonstration of the disease and play a key role in the clinical symptoms. Further, the particular metabolic pathways are often varied, with several of the steps being important and the importance of each mechanistic pathway may differ with every individual. [Pg.343]

As discussed above, in the case of phenylketonuria, early intervention can make the difference between mental retardation and a near normal life course for a newborn. Congenital adrenal hyperplasia and maple syrup urine disease are two examples of neonatal hereditary disorders where early diagnosis and medical intervention can make the difference between life and death for the newborn. In addition, in a number of genetic diseases, early diagnosis and treatment can help ameliorate symptoms these include fragile X syndrome, homocystinuria, sickle cell anemia, cystic fibrosis, and many /1-thalassemias. [Pg.175]

Although therapeutic approaches based upon gene therapy (Chapter 11) may well one day cure cystic fibrosis, current therapeutic intervention focuses upon alleviating CF symptoms,... [Pg.392]

Fuchs, H.J., D.S. Borowitz, D.H. Christiansen, E.M. Morris, M.L. Nash, B.W. Ramsey, B.J. Rosenstein, A.L. Smith, and M.E. Wohl, Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. The Pulmozyme Study Group. N Engl J Med, 1994. 331(10) 637 2. [Pg.256]

Children with cystic fibrosis lose excessive amounts of salt in perspiration and become dehydrated readily. A salty taste of the skin and an elevated chloride concentration of sweat are traditional diagnostic symptoms.3 More serious problems arise from progressive respiratory failure and inadequate pancreatic secretion. Lung infections with Pseudomonas aeruginosa are the major cause of death. The CFTR gene is expressed in many tissues, especially those of the mucous membranes. [Pg.1513]

Strandvik, B., Bronnegard, M., Gilljam, H., and J, Carlstedt-Duke, 1988, Relation between defective regulation of arachidonic acid release and symptoms in cystic fibrosis. Scand J Gastroenterol Suppl. 143 1-4. [Pg.27]

Children with other chronic medical conditions, such as asthma [37] or atopy [38] and cystic fibrosis, can be prone to sleep disruption either from medication used to treat the underlying condition, or as a result of poor symptom control. In addition, other factors such as the psychological response to illness, family dynamics, hospitalization-related disruption of normal sleep routines, and related secondary symptoms, such as pain, can significantly impact sleep in these children. Medical conditions which may place children particularly at risk for sleep problems also include severe burns, sickle cell anemia, rheumatological disorders, and chronic headaches. [Pg.137]

The rationale for the need of recovery animals was frequently discussed. For drag substances which require chronic (live time) treatment (e.g. oral anti-diabetics, drags for treatment of hypertension, anti-Parkinson drugs, etc.) the question of recovery is less important than in the case of anti-infectives with, in most cases, short treatment periods where mild symptoms of intolerance, e.g. diarrhoea, are observed. However, inclusion of recovery animals is recommended in general because at the stage of development where first clinical studies are conducted, the whole set of indications is not finally known and line extensions can happen. One example is the use of quinolones and other anti-infectives for the treatment of cystic fibrosis. Another example is drugs used for chemotherapy of malignant diseases where recovery has to be studies anyway. [Pg.782]

Most children with cystic fibrosis are diagnosed within one year of birth. Often the symptoms observed in a child, which eventually lead to diagnosis, are malabsorption, failure to gain weight and recurrent respiratory infections. [Pg.219]

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