A genetic disease due to a failure of the normal transport of chloride ions across cell membranes. This results in abnormally viscous mucus, affecting especially the lungs and secretion of pancreatic juice, hence impairing digestion.
A genetic disorder that affects the lungs and digestive system. Cystic fibrosis appears in infancy and is characterized by excessive mucus, breathing difficulties, and abnormal secretion and function of many of the other secretory glands of the body. Treatments alleviate the condition, but so far there is no cure.
A genetic disorder characterized by a thick, sticky mucus in the respiratory and digestive systems. In the lungs, the mucus interferes with breathing and results is susceptibility to respiratory diseases and lung damage. In the digestive system, the mucus interferes with the secretions of the pancreatic enzymes into the small intestine, resulting in malabsorption of nutrients is caused by a faulty recessive gene can be diagnosed by the sweat test in infants who have a high salt content in their sweat. Treatment consists of (a) postural drainage to expectorate mucus from the lungs and bronchial tubes, (b) the use of aerosol inhalants, (c) medications to prevent infections, (d) diet supplements, and (e) administration of pancreatic enzymes.
A hereditary disease in which there is malfunction of the exocrine glands such as the pancreas, in particular those which secrete mucus, causing respiratory difficulties, male infertility and malabsorption of food from the gastrointestinal tract.
A genetic disease in which the body fails to conserve the chloride ion.
Cystic fibrosis (CF) is an inherited disease that causes malfunction of the exocrine system. CF primarily affects gastrointestinal and respiratory functions; however, it can also impact hepatic, pancreatic, gastrointestinal, and reproductive systems. Chronic upper respiratory infections are often the first symptom of CF, followed by frequent and severe infections involving the accumulation of mucus. This creates opportunities for bacterial infections in the mucus membranes throughout the body, which is why the disease is associated with progressive and irreversible lung damage, pancreatic insufficiency, cirrhosis of the liver, sterility, and megacolon.
A metabolic disorder in which the body’s exocrine (externally secreting) glands, including the sweat and salivary glands, do not produce the normal clear, free-flowing fluid but a thick, sticky mucus; this mucus accumulates in various parts of the body, interfering with vital functions, such as breathing and digestion. CF is not infectious but is a genetic disorder of the autosomal recessive type, so it can be passed on to children only if both parents carry the defective gene; the Public Health Service estimates that there are now perhaps 10,000,000 such unaffected carriers in the United States. CF affects approximately one in every 6,000 newborns, most often those of Caucasian ancestry, less often Blacks, and only rarely those of Asian background. The defective gene was identified as being on chromosome 7 only in the late 1980s, and already genetic screening tests such as chorionic VILLUS SAMPLING and amniocentesis have been used to see if a fetus has CF. Tests for CF are in early stages, however, and lack reliability, giving a great many false positives and false negatives—so many that some doctors question whether they are worth giving yet. Prospective parents who have any history of CF in their families may well want to seek genetic counseling. Knowledge of the gene should help researchers understand precisely what causes CF and how they might correct the defect. At present, however, there is no preventive or cure for CF, only treatments that may alleviate symptoms of the disease.
Inherited disease, usually recognized in infancy or early childhood, in which the glands, esp. those of the pancreas, lungs, and intestines, become clogged with thick mucus. The sweat is typically salty, containing high levels of sodium and chloride. Respiratory infections are common and can lead to death. Life expectancy has improved markedly, and many victims now reach adulthood. Also called fibrocystic disease of the pancreas; mucoviscidosis.
An inherited disorder characterized by excessive, thick mucus which causes obstructions in the respiratory and gastrointestinal tract.
A hereditary disease of children and young adults characterized by abnormal function of the sweat and mucus-secreting glands. It primarily affects the lungs and digestive systems, especially the pancreas.
An inherited disease characterized by thick, sticky mucus in the ‘lungs and other organs and increased salt content in sweat. Cystic fibrosis (CF) affects the respiratory and digestive systems and is the most common fatal hereditary disease in white children in the United States. Boys and girls have an equal chance of being born with the disease. CF occurs in one in every 2,500 babies born in the United States. It occurs mostly in whites whose ancestors came from northern Europe. CF is less commonly seen in blacks. Native Americans, and Asians, although it is seen in all races and ethnic groups. Since CF is a recessive genetic disorder, a person must inherit an abnormal copy of the CF gene from each parent in order to be affected. About 4 percent of whites are carriers of the gene. A blood DNA test can detect whether an individual carries the gene.
A hereditary disease affecting the exocrine glands (including mucus-secreting glands, sweat glands, and others). The abnormality results in the production of thick mucus, which obstructs the intestinal glands (causing meconium ileus in newborn babies), pancreas (causing deficiency of pancreatic enzymes), and bronchi (causing bronchiectasis). Respiratory infections, which may be severe, are a common complication. The sweat contains excessive amounts of sodium and chloride, which is an aid to diagnosis. Treatment consists of minimizing the effect of the disease by administration of pancreatic enzymes and bronchial physiotherapy and by preventing and combating secondary infection.
This is the most common serious genetic disease in Caucasian children, with an incidence of about one per 2,500 births, and more than 6,000 patients in the UK (30,000 in the USA). It is an autosomal recessive disorder of the mucus-secreting glands of the lungs, the pancreas, the mouth, and the gastrointestinal tract, as well as the sweat glands of the skin. The defective GENE is sited on chromosome 7 which encodes for a protein, cystic fibrosis transmembrane conductance regulator (CFTR). Individuals who inherit the gene only on one set of chromosomes can, however, carry the defect into successive generations. Where parents have a child with cystic fibrosis, they have a one-in-four chance of subsequent children having the disease. They should seek geneic counselling.
A potentially fatal autosomal recessive disease that manifests itself in multiple body systems, including the lungs, the pancreas, the urogenital system, the skeleton, and the skin. It causes chronic obstructive pulmonary disease, frequent lung infections, deficient elaboration of pancreatic enzymes, osteoporosis, and an abnormally high electrolyte concentration in the sweat. The name is derived from the characteristic histologic changes in the pancreas. CF usually begins in infancy and is the major cause of severe chronic lung disease in children. In the U.S., CF occurs in 1 in 2500 white live births and 1 in 17,000 black live births and is the most common fatal genetic disease in European-American children.
A recessive genetic disorder in which the lungs and pancreas secrete abnormally thick mucus; it occurs mainly among whites.
There is a hereditary ailment which gives rise to various complications pertaining to the digestive, excretory, and respiratory systems. Among its consequences, the pancreas is unable to produce the necessary secretions essential for proper food digestion.
Cystic fibrosis (CF) is a grave genetic disorder with the potential to be life-threatening. It is distinguished by a predisposition for recurring lung infections and an impaired ability to absorb essential nutrients, particularly fats, from dietary intake. The prominent characteristic of CF is the production of thick, adhesive mucus in the nasal passages, throat, airways, and gastrointestinal tract. This thick mucus secretion poses significant challenges to respiratory and digestive functions, necessitating comprehensive medical management and support for affected individuals.
Cystic fibrosis (CF) arises from an inherited genetic anomaly that affects a specific gene. This defect follows a recessive pattern, implying that both parents must contribute a flawed gene for any abnormality to manifest. Individuals carrying only one defective gene are asymptomatic but act as “carriers,” capable of transmitting the gene to their offspring. Understanding the inheritance pattern of CF is crucial in comprehending its prevalence and the potential risks associated with future generations.
The presence of the defective gene gives rise to a biochemical anomaly that disrupts the normal movement of ions across cell membranes, leading to irregularities in mucus production. This malfunction affects the mucus-producing glands in multiple organs, impairing their proper functioning. Of particular concern is the malfunctioning of the bronchial tube linings, where the mucus glands produce abnormally thick mucus, making individuals more susceptible to chronic lung infections. Additionally, there is an inadequate or absent release of pancreatic enzymes responsible for breaking down and absorbing fats in the intestine, causing digestive complications. Furthermore, the sweat glands are also affected, resulting in excessive salt excretion through perspiration. These multiple manifestations of the genetic defect highlight the systemic impact of cystic fibrosis on various bodily functions.
The course and severity of cystic fibrosis (CF) can vary among individuals. Typically, affected children exhibit symptoms such as the passage of loose, pale, greasy, and foul-smelling stools, accompanied by difficulties in thriving. Growth may be stunted, and recurrent respiratory infections are common. Without timely intervention, complications such as pneumonia, bronchitis, and bronchiectasis can arise, leading to progressive lung damage. Infertility is a prevalent issue, primarily affecting most males and some females with CF. Furthermore, excessive salt loss through perspiration can increase the risk of heatstroke and collapse. The diverse manifestations of CF underscore the importance of early diagnosis and comprehensive treatment to mitigate the impact on affected individuals.
Timely identification through straightforward sweat and blood tests significantly enhances the prospects for children diagnosed with cystic fibrosis (CF). Early intervention involving comprehensive treatment is vital, involving intensive physiotherapy and the judicious use of antibiotics to mitigate the severity and frequency of lung infections. Dornase alfa, a genetically engineered variant of a human enzyme, administered via a nebulizer, can aid in improving lung function. To address nutritional deficiencies, pancreatin supplements and a diet abundant in proteins and calories are prescribed to promote weight gain and normalize bowel movements. Ideally, treatment and management are best conducted under the supervision of specialized centers equipped with pediatricians, nurses, and physiotherapists who possess in-depth knowledge of the disease. The collaborative efforts of this specialized team aim to optimize the care provided to individuals with CF.
The availability of highly specialized treatments has significantly increased the potential for individuals with cystic fibrosis (CF) to lead lives of reasonable quality. Remarkably, approximately 9 out of 10 children affected by CF survive into their teenage years, and many continue to thrive well into their 40s. Although progressive respiratory failure remains a common cause of mortality, advancements in medical care have opened avenues for considering heart-lung transplants in select cases. This comprehensive approach to treatment, combined with ongoing advancements in research, underscores the commitment to maximizing the well-being and life expectancy of those living with CF.