Cystic fibrosis

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Description from OMIM

Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). Infertility occurs in males and females. For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400).

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Pneumonia respiratory 100 % 10829988 2011-10-19
Obstructive lung disease respiratory 100 % 12001283 2011-10-06
Bronchiectasis respiratory 92 % 17099020 2012-05-09
Mucous plugging respiratory 90 % 17099020 2012-05-09
Pancreatic insufficiency digestive 87 % 8120708 2011-10-06
Failure to thrive multi 86 % 10829988 2011-10-06
Steatorrhoea digestive 86 % 10829988 2011-10-06
Peribronchial thickening respiratory 85 % 17099020 2012-05-09
Air trapping respiratory 62 % 17099020 2012-05-09
Clubbed fingers skeletal 60 % 10829988 2011-10-06
Sinusitis respiratory 40 % 10829988 2011-10-06
Hepatomegaly digestive 30 % 8120708 2011-10-06
Short stature skeletal 26 % 12447862 2011-10-06
Ileus digestive 26 % 10829988 2011-10-06
Mosaic perfusion respiratory 26 % 17099020 2012-05-09
Lung abscesses respiratory 18 % 17099020 2012-05-09
Ileus digestive 16 % 8120708 2011-10-06
Diabetes mellitus endocrine 15 % 12001283 2011-10-06
Bronchiolitis respiratory 13 % 10829988 2011-10-06
Cor pulmonale circulatory 13 % 10829988 2011-10-06
Nasal Polyposis respiratory 13 % 10829988 2011-10-06
Ileus digestive 10 % 12447862 2011-10-06
Cirrhosis digestive 10 % 12447862 2011-10-06
Emphysema respiratory 8 % 17099020 2012-05-09
Hearing loss nervous 7 % 10829988 2011-10-06
Splenomegaly circulatory 6 % 8120708 2011-10-06

List of references:

Cystic fibrosis--an Indian perspective on recent advances in diagnosis and management.
S K Kabra, M Kabra, M Ghosh, I C Verma,

Cystic fibrosis (CF) is a common inherited disorder in caucasians. The estimated incidence of CF in Asians varies from 1:10,000 to 1:12,000. Indian data is restricted to few case reports. The gene for CF is located on the long arm of chromosome 7 at position 7q13. There are more than 300 identified mutations in CF. The basic defect in CF is a mutational change in the gene for chloride conductance channel. Failure of chloride conductance by epithelial cells leads to dehydration of secretions that are too viscid and difficult to clear. The disease is characterized by abnormal secretions in the respiratory, gastrointestinal and reproductive tract and sweat glands. The common clinical manifestations include meconium ileus in neonatal period, recurrent lower respiratory tract infections (pseudomonas pneumonia, bronchiectasis), steatorrhoea, azoospermia, and in late stages hepatobiliary and endocrine pancreatic dysfunctions. The diagnosis of disease is established by clinical criteria and sweat chloride concentration more than 60 mEq/L. Facilities for DNA diagnosis of common CF mutations are now available in India. The treatment of CF includes early diagnosis, daily clearance of respiratory passages, appropriate antibiotic therapy, aerosolised recombinant human DNase and antibiotics, and nutritional supplementation. The latter include changes in diet composition, pancreatic enzyme supplementation and vitamins and trace mineral supplementation. Gene therapy for the pulmonary manifestations is being tried in a number of centres abroad. Other considerations include heart lung transplantation and ameloride inhalation therapy.

Indian journal of pediatrics -

Predictors of deterioration of lung function in cystic fibrosis.
C Schaedel, I de Monestrol, L Hjelte, M Johannesson, R Kornfält, A Lindblad, B Strandvik, L Wahlgren, L Holmberg,

The severity of lung disease in cystic fibrosis (CF) may be related to the type of mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and to environmental and immunological factors. Since pulmonary disease is the main determinant of morbidity and mortality in CF, it is important to identify factors that can explain and predict this variation. The aim of this longitudinal study of the whole Swedish CF population over age 7 years was to correlate genetic and clinical data with the rate of decline in pulmonary function. The statistical analysis was performed using the mixed model regression method, supplemented with calculation of relative risks for severe lung disease in age cohorts.The severity of pulmonary disease was to some extent predicted by CFTR genotype. Furthermore, the present investigation is the first long-term study showing a significantly more rapid deterioration of lung function in patients with concomitant diabetes mellitus. Besides diabetes mellitus, pancreatic insufficiency and chronic Pseudomonas colonization were found to be negative predictors of pulmonary function. In contrast to several other reports, we found no significant differences in lung function between genders. Patients with pancreatic sufficiency have no or only a slight decline of lung function with age once treatment is started, but an early diagnosis in this group is desirable.

Pediatric pulmonology - Jun 2002

Pulmonary abnormalities on high-resolution CT demonstrate more rapid decline than FEV1 in adults with cystic fibrosis.
Eoin P Judge, Jonathan D Dodd, James B Masterson, Charles G Gallagher,

FEV1 may remain stable while high-resolution CT (HRCT) appearances deteriorate in children with cystic fibrosis (CF). However, spirometry results commonly decline in older age groups.

Chest - Nov 2006

Analysis of risk factors for the development of liver disease associated with cystic fibrosis.
C Colombo, M G Apostolo, M Ferrari, M Seia, S Genoni, A Giunta, L P Sereni,

We prospectively screened for liver disease patients with cystic fibrosis who were more than 3 years of age and who were followed at the cystic fibrosis center of the University of Milan. From January 1991 to December 1992, we screened 189 patients; clinical, biochemical, and echographic abnormalities suggestive of overt liver disease were present in 34 (18%). To define risk factors for the development of liver disease associated with cystic fibrosis, we evaluated the possible role of specific mutations of the CFTR (cystic fibrosis transmembrane regulator) gene and of different clinical and demographic characteristics (sex, pancreatic status, meconium ileus or its equivalent) through a comparison of patients with cystic fibrosis and overt liver disease (n = 34) and those without liver disease (n = 155). Genetic analysis failed to reveal any significant difference in the allele frequencies of defined (delta F508, 1717-1G-A, G542X, N1303K, W1282X, R553X) and undefined mutations of the CFTR gene in the two groups of patients; genotype frequencies were also not significantly different. Pancreatic insufficiency was present in all patients with liver disease and in 87.3% of those without liver disease. A male predominance was found in the group with liver disease. The frequency of meconium ileus or its equivalent was significantly higher in patients with cystic fibrosis and liver disease (35.3%) than in patients without liver disease (12.3%) (p = 0.0025). In the 31 patients with a history of meconium ileus or its equivalent, the following hepatic abnormalities occurred more frequently than in the 155 patients with cystic fibrosis who did not have meconium ileus: hepatomegaly, biochemical abnormalities, heterogeneous echographic pattern of the liver, and microgallbladder. Twenty-four patients with a history of meconium ileus or its equivalent underwent hepatobiliary scintigraphy (with technetium-labeled iminodiacetic acid derivatives), which showed morphologic abnormalities suggestive of impaired biliary drainage in 21 patients and abnormalities in function in 11. The risk of acquiring liver disease was increased almost fourfold in patients with a history of meconium ileus or its equivalent, in comparison with patients who had cystic fibrosis but were unaffected by these complications (odds ratio, 3.9043; 95% confidence interval, 1.666 to 9.149). We conclude that patients with cystic fibrosis and meconium ileus or its equivalent may benefit from prophylactic treatment with ursodeoxycholic acid; genetic analysis of the major mutations present in this population failed to provide evidence of the existence of a specific genetic marker for the development of liver disease in patients with cystic fibrosis.

The Journal of pediatrics - Mar 1994

Liver disease in cystic fibrosis: A prospective study on incidence, risk factors, and outcome.
Carla Colombo, Pier Maria Battezzati, Andrea Crosignani, Alberto Morabito, Diana Costantini, Rita Padoan, Annamaria Giunta,

Incidence of liver disease (LD) associated with cystic fibrosis (CF) and its clinical characterization still is unsettled. We have assessed prospectively the incidence and risk factors of this complication, and its impact on the clinical course of CF. Between 1980 and 1990, we enrolled 177 CF patients without LD in a systematic clinical, laboratory, ultrasonography screening program of at least a 10-year duration. During a 14-year median follow-up (2,432 patient-years), 48 patients developed LD, with cirrhosis already present in 5. Incidence rate (number of cases per 100 patient-years) was 1.8% (95% confidence interval: 1.3-2.4), with sharp decline after the age of 10 years and higher risk in patients with a history of meconium ileus (incidence rate ratio, 5.5; 2.7-11), male sex (2.5; 1.3-4.9), or severe mutations (2.4; 1.2-4.8) at multivariate analysis. Incidence of cirrhosis was 4.5% (2.3-7.8) during a median period of 5 years from diagnosis of liver disease. Among the 17 cirrhotic patients, 13 developed portal hypertension, 4 developed esophageal varices, 1 developed liver decompensation requiring liver transplantation. Development of LD did not condition different mortality (death rate ratio, 0.4; 0.1-1.5) or higher incidence of other clinically relevant outcomes. In conclusion, LD is a relatively frequent and early complication of CF, whose detection should be focused at the first life decade in patients with history of meconium ileus, male sex, or severe genotype. Although LD does not condition a different clinical course of CF, in some patients it may progress rapidly and require liver transplantation.

Hepatology (Baltimore, Md.) - Dec 2002