Survey of Adult Cystic Fibrosis Patients and Parents of Cystic Fibrosis Patients on Nutrition Education (original) (raw)
Related papers
2000
Cystic fibrosis (CF) is an autosomal recessive disease caused by genetic lesions in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This CFTR gene was cloned in 1989,1-3 and located to the long arm of chromosome 7 (7q3L2). lt encodes the CFTR protein that functions as a adenosine 3',5'-cyclic monophosphate (cAMP)-regulated chloride channe1 in the apical rnembrane of exocrine epithelia, 4,5 like the sweat gland, subrnandibular glands, and the pulmonary, gastrointestinal, hepatobiliaty, and urogenital tracts. In individuals with CF the defective chloride transport leads to abnormal ion and water transport,6 whieh causes dehydration of secretions and malfunctioning of the obstructed exocrine glands, whieh typically results in chronic airway obsttuction, pancreatie insufficiency (PI), and intestinal malabsorption. The sunrival of CF patients has immensely improved throughout the last century: while in 1938, 70% of babies died within the first year of life, 7 the median survival is now reported to be towards 30 years of age,8,9 most probably due to the introduction of new therapeutic regimes, like physiotherapy, aggressive antibiotic treatment, pancreatic enzyme replacement, and proper nutrition. CF is the most common, lethal, inherited disease in the Caucasian population. lO There have been many reports on the incidence in Europe vmying from 1 in 2000 live bitths in Ireland 11 to 1 in 40000 live bit-ths in Finland. 12 In the Netherlands the incidence was estimated around 1 in 3600 life births,13 CF is found to be rare in persons from non-Caucasian origin. The most common CFTR gene mutation in the Caucasian population is the ó.F508 rnutation, a deletion of the amino acid phenylalanine at position 508, which occurs in approximately 70% of CF al1eles and 90% of CF patients. Vet, presently over 870 different CFTR mutations have been identified,14 which give rise to the cystic fibrosis phenotype. Historicaioverview 1S As far back as the 17 th century, reports have been found on children with symptoms as meconium ileus, pancreatic and lung disease and salt 10SS.16 However, first in 1938 cystic fibrosis was recognized and described as a separate disease syndrome. 7 Chronic lung infection was recognized early as one of the major symptoms, and consequently antibiotics were introduced in the treatment of CF in the 1940s. When investigations revealed that salt loss occurred via the sweat gland and that children with CF exhibited elevated chloride and sodium concentrations in their sweat,17 Gibson and Cooke l8 instigated the use of the diagnostic pilocarpine sweat test in 1959. In the 1980s more knowledge was galned about the molecular basis of the disease by Knowies and Boucher,19 who described a disturbed chloride and sodium Pancreas Pathological changes in the pancreas may be deteeted in intrauterine life,44 and exocrine panereatic insufficiency is present from birth in the majority of CF patients. 53 Nonetheless, functional pancreatie tissue is present at birth, capable of producing pancreatie enzymes since high levels of immunoreactive trypsin-like activity (IRT) are found in the neonatal blood, implying obstruction of the secretion of pancreatic hypsinogen. 54 The pathological changes consist of dilated ducts and acini owing to thick and Cl-fol/ows passively aeross the luminal and basolaterol membrane in healthy individuals, whieh is impaired in CF patients. Respirat01Y tract The apical surface of the epithelial eells of the alrways eontaln eilia that are covered with mucus, in which pathogenie and inhaled material is Smal! & large infesfine 2 ,132-134.136J37 villus high expressing ce lts apical membrane not in surface epithelium of colon reabsorptive duct Sweat gland 2. 13 1.l32 very liftle in seeretory eoil apical and baso!atera! membranes Liver l38 bile duel Salivary gland '32 intralobular duel apical membrane Kidney118.133 Tubules 1.8 The chloride channel lunction ol CFTR Before the discovery of the CF gene, functional studies were executed to determine the exact site for the abnormal electrolyte transport and to identify molecular entities responsible for the electrophysiological defect. By application of Cl-ehannel bloekers, Bijman et al showed that CI-transport in the sweat gland duct is through channels rather than paraeellularly,l44 The identification of different chloride channels in the epithelial tissues of the sweat gland 145,146 and airways147-150 supported these findings. After the discovery of the CF gene and the resulting gene product, several studies confirmed CFTR as the affected gene in CF disease, and its protein Sequence variations Nonpathological sequence variations were found within the coding region of the gene or within introns, and mayor may not lead to amino acid Normal CF References Sweot glond coil cAMP Defective 73.77.301 Ca 2 + Ca 2 + 6.73.77.290 not by PKC not by PKC 77 Sweot glond duet cAMP defective 302-304 Respirotary troet cAMP defective 150.156.282.286.305-307 Ca 2 + Ca 2 + 286.294.296.308.310 PKC defective 150.286.309 Intestinol troct cAMP defective 91.92.94.95.311 Ca 2 + Ca 2 + 293.312 '91:94:260 defective 47.92.95.311 PKC PKC '47:94:260 cGMP 168. NOTE.-In these studies. the Indlcated canductonce pothwoy IS present In CF epithelia, however, in subnormal amounts compared to control tissues.
Cystic Fibrosis -An Open Book that must be Always Updated
Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. The dysfunction of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) causes the disease by disrupting epithelial salt and water transport. Characteristic manifestations of the disease such as chronic respiratory infections, pancreatic enzyme insufficiency, and infertility are caused by the accumulation of mucus in the ducts. Nowadays nearly 2000 CFTR mutatioans are known. The most common mutation is F508del. F508del/F508del mutation is not always accompanied by severe manifestations. The clinical expression is different among patients, taking into account the mutations and another factor, among them, enviromental and modifier genes. In the case of rare mutations symptoms vary from patient to patient being influenced by environmental factors and modifier genes. We present a case with a less common combination of mutations and an atypical clinical presentation.
Bollettino chimico farmaceutico, 2005
CF is a lifelong genetic disease that result in formation of thick, sticky mucous in lung, pancreas and other organs. In lung, the airway is blocked by mucous causing lung damage. CF is as a result in mutation in cystic fibrosis transmemebrane conductance regulator (CFTR). The most common mutation in CF gene is (ΔF508). In ΔF508 mutation the Δ is deleted from three nucleotides result in loose of phenyl alanine amino acid at 508th location on protein. CF caused by mutation of (ΔF508) account two third of cases worldwide and difficulty in breathing and eventually severe lung infection. The most common signs is salty skin, growth rate retardation and loss of weight, however the food intake is normal, accumulation of thick sticky mucous in chest region which is difficult to control because of it's sticky in nature. Different diagnosis categories are used in screening of CF, such as sweat test or genetic testing and new born screening. In new borns, measuring the level of immunoreactive trypsinogen is valuable in detecting CF. Although there is no healing in CF patients, many ways are available for treatment. The key role in management of CF is treating of airway infection and encourages the patient to an active life style and using high energy content food. Management of CF continue throughout patient's life and it is important in maintaining of organ functioning and delay organ dysfunctions Index Terms Cystic fibrosis (CF), cystic fibrosis transmemebrane conductance regulator (CFTR), ΔF508 mutation I. INTRODUCTION CF is a lifelong genetic disease that result in formation of thick, sticky mucous in lung, pancreas and other organs. In lung, the airway is blocked by mucous causing lung damage and difficulty in breathing and eventually severe lung infection. In pancreas the most common feature is obstruction of pancreatic duct, which is lead to limitation in passage of pancreatic enzyme resulting in digestive problems (cystic fibrosis foundation 2007).According to many surveys which have been done by health organizations, survival age from CF has improved significantly over past 50 years, with increasing of median age of death by CF (Elborm, 2000 and Dodge, 2007). This improvement has been attributed by several factors including nutritional improvement, early monitoring of the individuals with early symptoms of CF and using drug of choice for treatment (Farrel, 2005 and Merel, 2001). In addition, socioeconomics play an important role in survival improvement with CF over 20 years ago. Children in England and Wales were found from manual socioeconomic groups have rate of death by CF three times more than those from non-manual socioeconomic groups (Britton, 1989). CF is caused by mutation in genes that encode cystic fibrosis transmembrane conductance regulator protein, which is expressed in many epithelial cells and blood cells (
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator
Human Genetics, 1998
Cystic fibrosis (CF) is considered to be a monogenic disease caused by molecular lesions within the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is diagnosed by elevated sweat electrolytes. We have investigated the clinical manifestations of cystic fibrosis, CFTR genetics and electrophysiology in a sibpair in which the brother is being treated as having CF, whereas his sister is asymptomatic. The diagnosis of CF in the index patient is based on highly elevated sweat electrolytes in the presence of CF-related pulmonary symptoms. The investigation of chloride conductance in respiratory and intestinal tissue by nasal potential difference and intestinal current measurements, respectively, provides no evidence for CFTR dysfunction in the siblings who share the same CFTR alleles. No molecular lesion has been identified in the CFTR gene of the brother. Findings in the investigated sibpair point to the existence of a CF-like disease with a positive sweat test without CFTR being affected. Other factors influencing sodium or chloride transport are likely to be the cause of the symptoms in the patient described.
Cystic Fibrosis: Biology and Therapeutics
Chronic Lung Diseases, 2020
Cystic fibrosis could be a common life-bound autosomal recessive hereditary condition, with highest occurrence in Europe, North America, and Australia. The root of illness is mutation of a gene that encodes a chloride-conducting transmembrane channel known as the cystic fibrosis transmembrane conductance regulator (CFTR) that regulates anion transfer and mucociliary clearance within the airways. Operational failure of CFTR ends up in mucus withholding and chronic contagion, followed by local airway swelling that is harmful to the lungs. CFTR operational impairment principally affects epithelial cells, though there is proof of a function in immune cells. Cystic fibrosis influences numerous body systems, and morbidity and mortality are typically due to bronchiectasis, tiny airways obstacle, and progressive respiratory abnormality. Necessary comorbidities due to epithelial cell operational impairment occur within the pancreas (malassimilation), liver (biliary cirrhosis), sweat glands (heat shock), and vas deferens (sterility). The progress and delivery of medication that recover the clearance of mucus from the lungs and treat the ensuing infection, together with rectification of pancreatic insufficiency and malnutrition via multidisciplinary requisites, have resulted in noteworthy enhancements of life and clinical conclusion in patients with cystic fibrosis. Inventive and transformational treatments that aim on the fundamental defect in cystic fibrosis have currently been grown and are useful in lung surgery and dropping pulmonary